A combination of symptoms and signs that together represent a disease process.

See: Aarskog-Scott syndrome.

See: Aase-Smith syndrome I.

See: Aase-Smith syndrome II.

See: Abdominal muscle deficiency syndrome.

A disorder characterized by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually to brilliant sunlight. The number of successive sneezes is usually two or three, but can be up to about 40. The Achoo syndrome is also called the photic sneeze refle [..]

AIDS.

See: Delirium.

Better known as ARDS. See: ARDS.

Also known as arteriohepatic dysplasia, this is a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period. Stagnant flow of bile f [..]

See: Alexander disease.

See: Alpers disease.

See: Alport syndrome.

See: Alstrom syndrome.

Also known as complete androgen insensitivity syndrome. This is a genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones). Instead, they are born looking externally like normal girls. Internally, there is a short blind-pouch vagina and no uterus, fallopian tubes or ovaries. There are testes in the abdomen or t [..]

An immune disorder characterized by the presence of abnormal antibodies in the blood associated with abnormal blood clotting, migraine headaches, recurrent pregnancy losses (repeat spontaneous abortions), and low blood platelet counts (thrombocytopenia). The abnormal antibodies are directed against phospholipids. (Phospholipids are fats that contai [..]

See: Aortic arch syndrome.

An inherited disorder with abnormalities of the skull and face and the hands and feet. There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front to back, and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. Th [..]

See: Asperger syndrome.

An altered expression of measles, AMS begins suddenly with high fever, headache, cough, and abdominal pain. The rash may appear 1 to 2 days later, often beginning on the limbs. Swelling (edema) of the hands and feet may occur. Pneumonia is common and may persist for 3 months or more. AMS occurs in persons who were incompletely immunized against mea [..]

Barlow syndrome is mitral valve prolapse (also known as "click murmur syndrome"), the most common heart valve abnormality, affecting 5%-10% of the world population. Most patients have no symptoms and require no treatment. However, the condition can be associated with fatigue and/or palpitations. The mitral valve prolapse can often [..]

A disease in which children are physically abused. The battered child syndrome is a form of child abuse. Not until the 19th century were children granted the same legal status as domesticated animals in regard to protection against cruelty and/or neglect. In 1962 the term "battered child syndrome" entered medicine. By 1976 all states in t [..]

See: Behcet's syndrome.

This is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls. As a result of this problem there is abnormal bleeding. Bernard-Soulier syndrome usually presents in the newborn period, infancy, or early childhood with bruises, nose bleeds (epistaxis), and/or gum (gingival) bleeding. [..]

Also known as incontinentia pigmenti (IP). A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin. (The name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) Other key f [..]

Spontaneous tearing and rupture of the esophagus. Typically, Boerhaave's syndrome requires an operation for repair.

An ophthalmology (eye) problem. Brown syndrome is an abnormality that is present at birth (congenitally) and is characterized by an inability to elevate the eyeball when trying to move the eyeball to the outside. Brown syndrome can also occur because of other conditions which affect the normal function of the eye muscles. The syndrome is named for [..]

An intense burning sensation on the tongue, often at the tip of the tongue. The burning mouth syndrome tends to develop in supertasters and post-menopausal women. Supertasters have an unusually large density of taste buds, each surrounded by pain fibers. Post-menopausal women with the burning mouth syndrome often lose their ability to sense bitter [..]

A syndrome due to carcinoid tumor which secretes large amounts of the hormone serotonin. The syndrome is directly due to the serotonin. Features include flushing and blushing, swelling of the face (especially around the eyes), flat angiomas (little collections of dilated blood vessels) on the skin, diarrhea, bronchial spasm, rapid pulse, low blood [..]

See Carpal tunnel syndrome.

See: Cartilage hair hypoplasia syndrome.

See: Cauda equina syndrome.

A genetic disorder, which is also called the Zellweger syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fat [..]

This syndrome, called the Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears [..]

The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears with [..]

See: Churg-Strauss syndrome.

See: Cockayne syndrome.

An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. [..]

A form of arteritis (also referred to as vasculitis) that involves the ear. This condition is called Cogan syndrome after the American ophthalmologist David Glendenning Cogan (1908-93) who first described it. Cogan syndrome features not only problems of the hearing and balance portions of the ear, but also inflammation of the front of the eye (the [..]

A genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones) because of a lack of a receptor for testosterone on the cells. Instead, they are born looking externally like normal girls. Internally there is a short blind-pouch vagina and no uterus, Fallopian tubes, or ovaries. There are testes in the abdomen or the [..]

See: Congenital central hypoventilation syndrome.

The constellation of abnormalities caused by infection with the rubella (German measles) virus before birth. The syndrome is characterized by multiple congenital malformations (birth defects) and mental retardation. The individual features of the syndrome include growth retardation, microcephaly (abnormally small head), cataracts, glaucoma, microph [..]

Overproduction of the hormone aldosterone (pronounced al-do-ster-one) by a tumor that contains tissue resembling that normally present in the outer portion (cortex) of the adrenal gland. The excess aldosterone results in a potassium level (hypokalemia), underacidity of the body (alkalosis), muscle weakness, excessive thirst (polydipsia), excessive [..]

A disorder clearly involving multiple gene loci that are adjacent to one another. An example of a contiguous gene syndrome is Angelman syndrome. It is due to the loss of a series of genes from a region of chromosome 15 termed 15q13-15. (The syndrome is characterized by four cardinal features: severe developmental delay or mental retardation, severe [..]

A toothache caused by a broken tooth (tooth fracture) without associated cavity or advanced gum disease. Biting on the area of tooth fracture can cause severe sharp pains. These fractures are usually due to chewing or biting hard objects such as hard candies, pencils, nuts, etc. Cracked tooth syndrome is most common in molars and in teeth with larg [..]

Better known as Creutzfeldt-Jakob disease (CJD). A dementing disease of the brain. It is believed due to an unconventional (not a bacteria or virus), transmissible agent called a prion. Symptoms of CJD include forgetfulness, nervousness, jerky trembling hand movements, unsteady gait, muscle spasms, chronic dementia, balance disorder, and loss of fa [..]

The constellation of symptoms and signs caused by an excess of cortisol hormone. Cushing syndrome is an extremely complex hormonal condition that involves many areas of the body. Common symptoms are thinning of the skin, weakness, weight gain, bruising, hypertension, diabetes, thin weak bones (osteoporosis), facial puffiness and, in women, cessatio [..]

See: Cyclic vomiting syndrome.

Better known today as Ehlers-Danlos syndrome (EDS), is an inherited disorder with easy bruising, joint hypermobility (loose joints), skin laxity, and weakness of tissues. There are a number of different Ehlers-Danlos syndromes which share these features but can be categorized into nine different types. Type I EDS (the "gravis" form of EDS [..]

See: de Lange syndrome.

A syndrome due to the dengue virus that tends to affect children under 10, causing abdominal pain, hemorrhage (bleeding) and circulatory collapse (shock). Known also as dengue hemorrhagic fever (DHF), it starts abruptly with high continuous fever and headache plus respiratory and intestinal symptoms with sore throat, cough, nausea, vomiting, and ab [..]

A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual. Down syndrome causes menta [..]

See: Duane syndrome.

A group of symptoms that occur when food or liquid enters the small intestine too rapidly. These symptoms include cramps, nausea, diarrhea, and dizziness.

An inherited cause of bone-marrow failure, dyskeratosis congenita is a syndrome characterized by abnormal excess skin pigmentation, abnormal or absent nails, and mucosal leukoplakia (white premalignant areas on the lips and conjunctiva of the eyes and in the mouth, anus, and urethra). More than 80% of patients with dyskeratosis congenita develop bo [..]

Inflammation of the styloid process, a spike-like projection sticking off the base of the skull. The tissues in the throat rub on this structure during the act of swallowing causing pain. The diagnosis of Eagle syndrome is made by history and an x-ray showing the abnormal styloid process. Anti-inflammatory drugs are the first line of treatment alth [..]

The formation of blood clots in veins deep within the legs -- deep vein thrombosis -- occurring during (or just after) a long airplane flight, especially in economy class (tourist class) where there is the least space allotted per passenger and ones legs tend especially to be immobilized for lack of leg room. The economy class syndrome is directly [..]

This is trisomy 18 syndrome. There are three instead of the normal two chromosomes #18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome #18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, c [..]

See: Ehlers-Danlos syndrome.

This syndrome described in 1930 by T. Fahr is a genetic (inherited) neurological disorder characterized by abnormal deposits of calcium in certain of areas of the brain (including the basal ganglia and the cerebral cortex). Symptoms may include motor function deterioration, dementia, mental retardation, spastic paralysis, dysarthria (poorly articul [..]

A mother's intake of alcoholic beverages during pregnancy and its effects on her fetus.

An inborn error of metabolism associated with an offensive body odor, the smell of rotting fish, due to the excessive excretion of trimethylaminuria (TMA) in urine, sweat, and breath. Persons with TMA may experience tachycardia (fast heart rate) and severe hypertension (high blood pressure) after eating cheese (which contains tyramine) and after us [..]

A general medical reference to an abnormal condition of newborns and infants manifested by inadequate tone of the muscles. It can be due to a multitude of different neurologic and muscle problems. See also Hypotonia.

The most common heritable form of intellectual disability, occurring in about one in five thousand males and a smaller percentage of females. Characteristics of Fragile X syndrome in boys include prominent or long ears, a long face, delayed speech, large testes (macroorchidism), hyperactivity, tactile defensiveness, gross motor delays, and autistic [..]

Sweating on one side of the forehead, face, scalp, and neck occurring soon after ingesting food as a result of damage to a nerve that goes to the large saliva gland in the cheek (the parotid gland). Frey syndrome is the most common cause of sweating after eating (gustatory sweating). Gustatory sweating is also a rare complication of diabetes mellit [..]

See Syndrome, MASA.

A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep. Named for a French neurologist, JBE Gelineau (1859-1906). Also known as narcolepsy. The disorder is often associated with cataplexy (a sudden loss of muscle tone and paralysis of voluntary muscles associated with a strong emotion), sleep paralysis (immobility o [..]

See: Gerstmann-Sträussler-Scheinker syndrome.

This condition is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls and as a result of this problem there is abnormal bleeding. The giant platelet syndrome usually presents in the newborn period, infancy, or early childhood with bruises, nose bleeds (epistaxis), and/or gum (ging [..]

See Gilbert syndrome.

The temporary loss of consciousness in particular kinds of situations. (Syncope is temporary loss of consciousness or, in plain English, fainting). The situations that trigger this reaction are diverse and include having blood drawn, straining while urinating or defecating or coughing. The reaction also can be due to the emotional stress of fear or [..]

See: Guillain-Barre syndrome.

See: Gulf War syndrome.

A disorder first reported in 1999 by Gustavson and colleagues as a new X-linked mental retardation syndrome. In the family they studied there were 7 male children in 2 generations with the syndrome. The affected males were genealogically connected through females who were presumed to be carriers of the gene responsible for the syndrome. In addition [..]

A clinical pattern consisting of a rash on the hands and feet and in the mouth due to a viral infection. The internal rash (the enanthem) consists of blisters and little ulcers that may involve not only the lining of the mouth but also the gums, palate, and tongue. The external rash on the body (the exanthem) typically affects the hands (most commo [..]

See: Hantavirus pulmonary syndrome.

The syndrome of familial Hypoparathyroidism, sensorineural Deafness, and Renal dysplasia. Inherited as an autosomal dominant trait, the syndrome is caused by haploinsufficiency of the GATA3 gene in chromosome 10p. The hypoparathyroidism causes hypocalcemia (a low level of calcium in blood) and lifelong fatigue and depression. The deafness is congen [..]

Inherited disorder transmitted as an autosomal dominant trait in which short tight muscles make it impossible to open the mouth fully or keep the fingers straight when the hand is flexed back. The small mouth creates feeding problems. The hands may be so tightly fisted the infant crawls on the knuckles. Also called the trismus pseudocamptodactyly s [..]

See: HELLP syndrome.

See: Hemolytic uremic syndrome.

See: Hermansky-Pudlak syndrome.

A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidrosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical sympathetic [..]

An inherited error of metabolism in which there is deficiency of the enzyme alpha-L-iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of mucopolysaccharides in the tissues of the body. There are 2 clinical subtypes of disease due to deficiency of alpha [..]

A form of congenital heart disease in which the whole left half of the heart (including the aorta , aortic valve, left ventricle and mitral valve) is underdeveloped (hypoplastic). Blood returning from the lungs has to flow through an opening in the wall between the upper chambers of the heart (an atrial septal defect). The right ventricle pumps blo [..]

A genetic disease that begins soon after birth with the development of blisters on the trunk and limbs. These blisters then heal, but leave dark hyperpigmented streaks and marble-like whorls on the skin. Other key features include dental and nail abnormalities, bald patches and, in about one-third of cases, mental retardation. Incontinentia pigment [..]

A common gastrointestinal disorder (also called spastic colitis, mucus colitis or nervous colon syndrome), IBS is an abnormal condition of gut contractions (motility) and gut sensation (hypersensitivity) characterized by abdominal pain/discomfort , bloating, mucous in stools, and irregular bowel habits with constipation or diarrhea or alternating d [..]

This is a type of what is called pachyonychia congenita (elephant nails from birth). The characteristic features include: Abnormally thick curved nails (onychogryposis) Thickening of the skin (hyperkeratosis) of the palms, soles, knees and elbows White plaques (leukoplakia) in the mouth Excess sweating (hyperhidrosis) of the hands and feet Teeth ar [..]

See Syndrome, hypermobility.

The trio of sinusitis, bronchitis and situs inversus (lateral reversal of the position all organs in the chest and abdomen with the heart and stomach on the right, the liver on the left, etc.-opposite or "inverted" from their usual position).

A syndrome of unknown origin, mainly affecting young children, that causes fever, reddening of the eyes (conjunctivitis), lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in the neck (cervical lymphadenopathy), and a rash that is raised and bright red (maculoerythematous) in a glove-and-sock fashion over t [..]

See Keratitis-ichthyosis-deafness syndrome.

Acronym for the Keratitis- Ichthyosis-Deafness syndrome, a genetic disorder. See Keratitis-ichthyosis-deafness syndrome.

Diabetic nephropathy (kidney disease). Kimmelstiel-Wilson syndrome is a kidney condition associated with long-standing diabetes. It affects the network of tiny blood vessels (the microvasculature) in the glomerulus, a key structure in the kidney that is composed of capillary blood vessels and which is critically necessary for the filtration of the [..]

See: Klinefelter syndrome.

See: Klippel-Feil sequence.

A congenital malformation syndrome characterized by the triad of asymmetric limb hypertrophy, hemangiomata, and nevi. "Asymmetric limb hypertrophy" is enlargement of one limb and not the corresponding limb on the other side, the enlarged limb being 3 times more likely to be a leg than an arm in KTW; and the limb enlargement is of [..]

A condition with a lack of neutrophils (a type of white blood cell that is important in fighting infection). Children with the syndrome suffer frequent infections from bacteria which in the past led to death in three-quarters of cases before 3 years of age. This disease is also known as severe congenital neutropenia (SCN). Children with severe cong [..]

See Landau-Kleffner syndrome.

A disorder characterized by painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs. The condition is thought to be genetic although its exact mode of inheritance is uncertain; it may be a mitochondrial DNA disease. It frequently appears in association with alcoholic liver disease, macrocytic anemia (&q [..]

See: Lennox syndrome.

A severe form of epilepsy that usually begins in early childhood and is characterized by frequent seizures of multiple types, mental impairment, and a particular brain wave pattern (a slow spike-and-wave pattern). The seizures that are notoriously hard to treat and may lead to falls and injuries can be reduced in frequency by treatment with lamotri [..]

See: Lenz microphthalmia syndrome.

This is an extraordinary cancer family syndrome. People with LFS have a tendency to develop a great diversity of tumors. LFS was first discovered in 1969. By reviewing the medical records and death certificates of children with a relatively rare tumor, a soft tissue sarcoma called rhabdomyosarcoma, Drs. Fred Li and Joe Fraumeni at the National Canc [..]

A disturbance of lipid (fat) metabolism that involves the partial or total absence of fat and often the abnormal deposition and distribution of fat in the body. There are a number of different lipodystrophy syndromes. Some of them are congenital (present at birth) while others are acquired later. Some are genetic (inherited), others not. One lipody [..]

A neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. The locked-in syndrome is usually a complication of a cerebrovascular accident (a stroke) in the base of the pons in the brainstem. The patient is alert and fully conscious but cannot move. Only verti [..]

See Long QT syndrome.

See: Marfan syndrome.

Better known as the fragile X syndrome, the most common heritable form of mental retardation. Fragile X syndrome is due to mutation (changes) at the fragile X site and so perforce is X-linked (carried on the X chromosome). Although it is usually more severe in males than females, the syndrome is due to a dynamic mutation (a trinucleotide repeat) th [..]

See: Takayasu disease.

MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs. Features of the syndrome include (1) neurologically: mental retardation and aphasia (lack of speech); (2) limbs: adducted (clasped) thumbs, absent extensor pollicis longus and/or brevis muscles to the thumb, shuffling gait, and leg spasticity; (3) growth: small body s [..]

A heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. Hence, the acronym MASS (Mitral valve, Aorta, Skeleton, Skin). The MASS syndrome is due to a mutation in the fibrillin 1 gene FBN1, the same gene as is mutated in Marfan syndrome.

A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother's hormones during pregnancy. Boys with this disease have the opening for urine on the underside of the penis (hypospadi [..]

MELAS is the acronym for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. MELAS is a form of dementia. It is caused by mutations in the genetic material (DNA) in the mitochondria. While most of our DNA is in the chromosomes in the cell nucleus, another important cell structure that carries DNA is the mitochondrion. Much of t [..]

A condition with recurrent vertigo accompanied by ringing in the ears (tinnitus) and deafness. Symptoms include vertigo, dizziness, nausea, vomiting, loss of hearing (in the affected ear), and abnormal eye movements. Meniere syndrome or disease is due to dysfunction of the semi- circular canals (endolymphatic sac) in the inner ear. The treatment of [..]

See: Menkes syndrome.

A syndrome of unknown origin, mainly affecting young children. It causes fever, reddening of the eyes (conjunctivitis) and lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in the neck (cervical lymphadenopathy), and a rash that is raised and bright red (maculoerythematous) in a glove-and- sock fashion over [..]

Recurrent feigning of catastrophic illnesses. Munchhausen syndrome is a psychological disorder that is characterized by the recurrent presentation of the patient for treatment of an acute and often dire illness that is, in reality, not present. The person with Munchhausen syndrome usually gives a plausible and dramatic history. All of it is entirel [..]

See: Myelodysplastic syndrome.

A common gastrointestinal disorder involving an abnormal condition of gut contractions (motility) characterized by abdominal pain, bloating, mucous in stools, and irregular bowel habits with alternating diarrhea and constipation, symptoms that tend to be chronic and to wax and wane over the years. Although the disorder can cause chronic recurrent d [..]

A multifaceted genetic disorder characterized by a series of birth defects (congenital malformations) including dysmorphic (malformed) facial features, short stature after birth (postnatal growth retardation), webbing of the neck (pterygium colli), caved-in chestbone (pectus excavatum), cardiovascular problems (pulmonic stenosis and hypertrophic ca [..]

See: Pagon syndrome.

Condition with multiple malformations at birth and mental retardation due to isochromosome 12p mosaicism (an abnormal chromosome #12 in some cells).

See: Paraneoplastic syndrome.

Trisomy 13 syndrome or three chromosome number 13s instead of the normal two. Children with this condition have multiple malformations and mental retardation due to an extra chromosome #13 Named after the late Klaus Patau who described the extra chromosome in 1960. This is trisomy 13 syndrome. There are three rather than the normal two chromosomes [..]

The commonest cause of chronic knee pain, PFS characteristically causes vague discomfort of the inner knee area, aggravated by activity (running, jumping, climbing or descending stairs) or by prolonged sitting with knees in a moderately bent position (the so- called "theater sign" of pain upon arising from a desk or theater seat). The kne [..]

See: Plummer-Vinson syndrome.

See Pendred syndrome.

See: Perrault syndrome.

Term coined by pop psychology author Dan Kiley in his book "Peter Pan syndrome: Men Who Have Never Grown Up." Peter Pan is in reference to J. M. Barrie's classic play in which a boy, Peter Pan, who refuses to grow up teaches Wendy and her younger brothers how to fly and then it's off to magical Neverneverland for adventures with [..]

See Phantom limb syndrome.

The combination of obesity, somnolence (sleepiness), hypoventilation (underbreathing), and plethoric (red) face. The syndrome is so named because of the "fat and red-faced boy in a state of somnolency" that Charles Dickens described in his novel, The Pickwick Papers. (The same boy is thought by some experts possibly to have had the Prader [..]

Irritation of the sciatic nerve caused by compression of the nerve within the buttock by the piriformis muscle. Typically, the pain of the piriformis syndrome is increased by contraction of the piriformis muscle, prolonged sitting, or direct pressure applied to the muscle. Buttock pain is common. The piriformis syndrome is one of the causes of scia [..]

A condition in which there is sustained involuntary flexion of the body and head to one side and slight rotation of the trunk so the person appears to lean like the Leaning Tower of Pisa. The Pisa syndrome is an adverse effect (a side-effect) of some medications. It occurs sometimes following the long-term use of narcoleptics (drugs used to treat s [..]

A unique pattern of one-sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Poland syndrome is right-sided three times more often than it is left-sided. It is not common, affecting 1 child in abou [..]

See: Polycystic ovarian syndrome.

A genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism -- underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). PGA was the first sy [..]

See Popliteal web syndrome.

A constellation of symptoms and signs that appear from 20 to 40 years after the initial polio infection, and at least 10 years after what was thought to be recovery from polio It is estimated that 1.63 million Americans were struck by polio in the epidemics of the 1940's, 50's, and early 60's, and that 440,000 of the survivors suffer [..]

See: Prader-Willi syndrome.

See Premenstrual syndrome.

A disturbance of cell growth including benign tumors under the skin, overgrowth of the body, often more on one side than the other (hemihypertrophy), and overgrowth of fingers (macrodactyly). The syndrome is named after the Greek god Proteus the polymorphous who could change his appearance. The "elephant man" (John Merrick) of 19t [..]

Partial or complete absence of the abdominal muscles so that the outlines of the intestines are visible through the thin, lax, protruding abdominal wall. The abdominal wall looks shrunken, shriveled and wrinkled like a prehistoric prune. The prune belly syndrome probably occurs only in males. In addition to the abdominal muscle deficiency, they ten [..]

A distinctive syndrome of headaches, also known as cluster headache or migrainous neuralgia. The common pattern of cluster headache is termed "episodic" and is characterized by 1-3 short attacks of pain each day around the eyes, clustered over a stretch of 1-2 months, followed by a pain- free breathing period (average: a year). The other [..]

See: Ramsay Hunt syndrome.

A condition that features a group of typical symptoms, including pain (often "burning" type), tenderness, and swelling of an extremity associated with varying degrees of sweating, warmth and/or coolness, flushing, discoloration, and shiny skin.

A chronic form of inflammatory arthritis wherein the following three conditions are combined: (1) arthritis; (2) inflammation of the eyes (conjunctivitis); and (3) inflammation of the genital, urinary or gastrointestinal systems.

A number of diseases, also known as hemorrhagic fever, characterized by an abrupt onset of high fever and chills, headache, cold and cough, and pain in the muscles, joints and abdomen with nausea and vomiting followed by bleeding into the kidney and elsewhere. Known also as hemorrhagic fever with renal syndrome. Many arboviruses (including those in [..]

See: Hereditary hemorrhagic telangiectasia.

Formerly known as hyaline membrane disease, a syndrome of respiratory difficulty in newborn infants caused by a deficiency of a molecule called surfactant. RDS almost always occurs in newborns born before 37 weeks of gestation. The more premature the baby is, the greater is the chance of developing RDS. RDS is more likely to occur in newborns of di [..]

See: Rett syndrome.

A sudden, sometimes fatal, disease of the brain (encephalopathy) with degeneration of the liver, occurs in children (most cases 4-12 years of age), comes after the chickenpox (varicella) or an influenza-type illness, is also associated with taking medications containing aspirin. The child with Reye (pronounced rye) syndrome first tends to be unusua [..]

See: Myotonic dystrophy type 2.

See: Familial dysautonomia.

See Rothmund-Thomson syndrome.

SAPHO syndrome is an eponym for a condition which is characterized by a combination of: Synovitis -- inflammation of the joint lining (synovium), typically manifest as warmth, tenderness, pain, swelling, and stiffness of involved joints (arthritis). Acne -- a familiar skin condition featuring tiny areas of inflammation with pus formation at the hai [..]

See Scalded skin syndrome.

See: Velocardiofacial syndrome.

See eosinophilic fasciitis.

An autoimmune diseases, also known as Sjogren syndrome, that classically combines dry eyes, dry mouth, and another disease of the connective tissues such as rheumatoid arthritis (most common), lupus, scleroderma or polymyositis. There is a great preponderance of females. About 90% of Sjogren syndrome patients are female, usually in middle age or ol [..]

Symptoms of dizziness, confusion, fainting, and heart failure due to a problem with the sinus node of the heart, which acts as the body's natural pacemaker. If the sinus node is not functioning normally, it is reflected in an abnormally slow heart rate (bradycardia). This can cause poor pumping by the heart, which can impair the circulation. D [..]

See: Sjogren syndrome.

The Sjogren-Larsson syndrome is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish-like skin), spastic paraplegia (spasticity of the legs) and mental retardation. The skin changes in the Sjogren-Larsson syndrome are similar to those in congenital ichthyosiform erythroderma, a [..]

Known descriptively as polycystic ovarian (PCO) disease, this syndrome is an hormonal problem that causes women to have various symptoms including: Irregular or no periods Acne Obesity, and Excess hair growth. All women with PCO have irregular or no menses. Women with PCO do not ovulate (do not release an egg every month). Women with PCO are at a h [..]

See: Stevens-Johnson syndrome.

A genetic disorder also known as hyperekplexia in which babies have an exaggerated startle reflex (reaction). This disorder was not recognized until 1962 when it was described by Drs. Kok and Bruyn as a disease with the onset at birth of hypertonia (stiffness), exaggerated startle response, strong brain-stem reflexes (especially head-retraction ref [..]

TAR stands for thrombocytopenia (low blood platelets) and Aplasia (absence) of the Radius (the long bone on the thumb-side of the forearm), features characterizing this syndrome. There is phocomelia (flipper-limb) with the thumbs always present. The fibula (the smaller bone in the lower leg) is often absent. The risk of bleeding from too few platel [..]

See Tarsal tunnel syndrome.

Now more appropriately called the complete androgen insensitivity syndrome, this is a genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones). Instead, they are born looking externally like normal girls. Internally, there is a short blind-pouch vagina and no uterus, fallopian tubes or ovaries. There are testes [..]

//www.medicinenet.com/thrombocytopenia_low_platelet_count/article.htm">thrombocytopenia: See Syndrome, TAR.

See: DiGeorge syndrome.

A condition due to compromise of blood vessels or nerve fibers between the armpit (axilla) and base of the neck, usually due to compression of nerves or blood vessels between the neck and shoulders. Symptoms include pain, arm weakness, and numbness in the hands and fingers. Thoracic outlet syndrome can be caused by overstress from some types of man [..]

See Syndrome, TAR.

See: Timothy syndrome.

Disorder of the temporo-mandibular joint (TMJ) causing pain usually in front of the ear. Pain in the TMJ can be due to trauma (such as a blow to the face), inflammatory or degenerative arthritis, or by the mandible being pushed back towards the ears whenever the patient chews or swallows. Sometimes, muscles around the TMJ used for chewing can go in [..]

A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or Witkop syndrome (TNS). It was first described by Dr. Carl Witkop in 1965. The tooth and nail defects in the syndrome are highly variable. The number and type of congenitally missin [..]

A tic disorder characterized by the presence of chronic vocal and motor tics, probably based on differences in or damage to the basal ganglia of the brain. Tourette syndrome usually emerges between the ages of 6 and 18 and is somewhat more common in people with ADHD (attention deficit hyperactivity disorder), obsessive-compulsive disorder, or an au [..]

A grave condition occurring predominantly in menstruating women using tampons. Toxic shock is characterized by a highly toxic state (with sudden high fever, vomiting, diarrhea, muscle aching) followed by low blood pressure (hypotension) which can lead to shock (and death). There may be a rash resembling sunburn with peeling of skin. The Channing La [..]

Condition with three rather than the normal two chromosomes #13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome #13. The congenital malformations (birth defects) commonly include scalp defects, hemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and pa [..]

There are three instead of the normal two chromosomes #18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome #18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal f [..]

A common chromosome disorder, often called Down syndrome, due to an extra chromosome number 21 (trisomy 21). The chromosome abnormality affects both the physical and intellectual development of the individual. Trisomy 21 (Down) syndrome is associated with a major risk for heart malformations, a lesser risk of duodenal atresia (part of the small int [..]

See Nail-patella syndrome.

A genetic disorder characterized by hearing impairment and an eye disorder called retinitis pigmentosa in which vision worsens over time. Some people with Usher syndrome also have balance problems. It is the most common disease that compromises both hearing and vision. More than half of all deaf-blind people have Usher syndrome. The syndrome is pas [..]

See Von Hippel-Lindau syndrome.

See Waardenburg syndrome.

A premature aging disease that begins in adolescence or early in adulthood and results in apparent old age by 30-40 years of age. The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face, beaked nose, cataracts, scleroderma-like skin changes (especially in the extremities), subcutaneous calci [..]

A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or, more picturesquely, as the tooth and nail syndrome (TNS). The tooth and nail defects in the syndrome are highly variable. The number and type of congenitally missing permanent and [..]

See: Wolf-Hirschhorn syndrome.

A condition caused by an abnormality in the electrical system of the heart which normally tells the heart muscle when to contract. In Wolff-Parkinson-White (WPW) syndrome there is an extra electrical connection inside the heart that acts as a short circuit, causing the heart to beat too rapidly and sometimes in an irregular manner. The syndrome can [..]

See: Wolfram syndrome.

WPW is an abbreviation for the Wolff-Parkinson-White syndrome, a condition caused by an abnormality in the electrical system of the heart which normally tells the heart muscle when to contract.See: Wolff-Parkinson-White Syndrome.

The yeast Candida has been thought to cause a syndrome with a number of nonspecific problems including fatigue, loss of appetite, headache, short-attention span, depression and all manner of intestinal irregularities. There is no scientific evidence to support the existence of the yeast syndrome (also called the yeast connection).

A genetic disorder, also called the cerebrohepatorenal syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fat [..]

A rare disorder caused by a tumor called a gastrinoma, most often occurring in the pancreas. The tumor secretes the hormone gastrin, which causes increased production of gastric acid leading to severe recurrent ulcers of the esophagus, stomach, and the upper portions of the small intestine (the duodenum and jejunum). Gastrinomas resulting in the Zo [..]

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease.

Set of signs and symptoms occurring together and often characterizing a particular disease-like state.

A group of signs and symptoms that are associated with a physical or physiological anomaly; they represent a frame of reference, not a cause.

"a number of symptoms occurring together," 1540s, from medical Latin, from Greek syndrome "concurrence of symptoms, concourse of people," from syndromos "place where several r [..]

A group of symptoms as reported by the patient and signs as detected in an examination that together are characteristic of a specific condition.

A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.

a complex of concurrent things; "every word has a syndrome of meanings" a pattern of symptoms indicative of some disease In medicine and psychology, a syndrome is the associa [..]

A group of signs and symptoms that collectively define or characterize a disease or disorder; signs are objective findings such as weakness, and symptoms are subjective findings such as a feeling of f [..]

A set of symptoms that are exhibited together that are indicative of a specific disease.

The aggregate of signs and symptoms associated with any morbid process, and constitution together the picture of the disease.

A group of symptoms characteristic of a particular disease or abnormality. synergid

It is a group of the symptoms together with the signs that result to only one cause. They can indicate that there are a certain mental or physical diseases. It is also known as the symptom complex.

syndrome (pop)

(French : syndrome) The group or recognizable pattern of symptoms or abnormalities that indicate a particular trait or disease.

(n) a pattern of symptoms indicative of some disease(n) a complex of concurrent things

A set of signs or a series of events occurring together that make up a disease or health problem.

A collection of different signs and symptoms that are all part of the same underlying medical condition.

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease.

The fleshy part of the palm of the hand located at the base of the thumb.

A group of symptoms and diseases that together are characteristic of a specific condition.   TClick here to return to list

Complex of symptoms occurring together. In morbid states, a syndrome is the sum of signs of any diseased state.

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease.

 A combination of signs and symptoms that, when present together, are associated with a specific medical condition. 

a term used rather loosely but properly referring to the regular occurrence of a group of symptoms such that a condition can be identified. The term is also sometimes used to describe characteristic b [..]

a combination of symptoms that occur together and is indicative of a specific condition or disease.

Familial pseudoaldosteronism characterized by autosomal dominant inheritance of Hypertension with Hypokalemia; Alkalosis; Renin and Aldosterone level decreases. It is caused by Mutations in Epithelial [..]

An autosomal dominant Aneurysm with multisystem abnormalities caused by increased TGF-beta signaling due to Mutations in type I or II of TGF-beta Receptor. Additional craniofacial features include Cle [..]

Benign childhood Alopecia that improves spontaneously with Aging. It is characterized by anagen Hairs (misshapen Hair bulbs and absent inner and outer root sheaths), thin, and sparse Hairs that pulls [..]

A form of ventricular pre-excitation characterized by a short PR interval and a normal QRS complex. In this Syndrome, the atrial impulse conducts via the JAMES FIBERS which connect the atrium to Bundl [..]

A condition characterized by a combination of OSTIUM SECUNDUM Atrial Septal Defect and an acquired Mitral Valve Stenosis.

An exfoliative Disease of Skin seen primarily in Adults and characterized by flaccid Bullae and spreading Erythema so that the Skin has the appearance of being scalded. It results primarily from a tox [..]

A prodromal phase of Infection with the Human Immunodeficiency Virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-Cell humoral immune re [..]

HNPCC with no history of associated cancers.

A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-Lymphocytes and Macrophages. It is seen predominantly in [..]

General term for a group of Malnutrition Syndromes caused by failure of normal Intestinal Absorption of nutrients.

A symptom complex associated with Carcinoid Tumor and characterized by attacks of severe Flushing of the Skin, diarrheal watery stools, Bronchoconstriction, sudden drops in Blood Pressure, Edema, and [..]

A condition characterized by mucosal Tears at the Esophagogastric Junction, sometimes with Hematemesis. Typically it is caused by forceful bouts of retching or Vomiting.

Manganese Poisoning is associated with chronic Inhalation of Manganese particles by individuals who Work with Manganese ore. Clinical features include Confusion; Hallucinations; and an extrapyramidal [..]

An autosomal dominant disorder of Connective Tissue with abnormal features in the Heart, the eye, and the skeleton. Cardiovascular manifestations include Mitral Valve Prolapse, dilation of the Aorta, [..]

Mucopolysaccharidosis with excessive Chondroitin Sulfate B in urine, characterized by Dwarfism and Deafness. It is caused by a deficiency of N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B).

A condition caused by Inhalation of Meconium into the Lung of Fetus or Newborn, usually due to vigorous respiratory Movements during difficult Parturition or Respiratory System Abnormalities. Meconium [..]

A Mitochondrial Disorder characterized by focal or generalized Seizures, episodes of transient or persistent neurologic dysfunction resembling Strokes, and ragged-red fibers on Muscle Biopsy. Affected [..]

An idiopathic Syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing Facial Paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood [..]

A Disease of the inner ear (Labyrinth) that is characterized by fluctuating Sensorineural Hearing Loss; Tinnitus; episodic Vertigo; and aural fullness. It is the most common form of Endolymphatic Hydr [..]

Neurologic Disorders associated with exposure to inorganic and organic Forms of Mercury. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and Paraparesis [..]

A progressive form of Dementia characterized by the global loss of Language abilities and initial preservation of other cognitive functions. Fluent and nonfluent subtypes have been described. Eventual [..]

A cluster of metabolic Risk Factors for Cardiovascular Diseases and Type 2 Diabetes Mellitus. The major components of metabolic Syndrome X include excess Abdominal Fat; atherogenic Dyslipidemia; Hyper [..]

Complication of Cholelithiasis characterized by Obstructive Jaundice; Abdominal Pain, and Fever.

Thickening of the inner table of the Frontal Bone, which may be associated with Hypertrichosis and Obesity. It most commonly Affects Women near Menopause.

An unexplained illness which is characterized by Skin Manifestations including non-healing lesions, Itching, and the appearance of fibers. There appears to be a strong Association with Lyme Disease.

Genetic disorder of mucopolysaccharide Metabolism characterized by skeletal abnormalities, Joint Instability, development of cervical Myelopathy, and excessive urinary Keratan Sulfate. There are two b [..]

A form of Lynch Syndrome II associated with cutaneous Sebaceous Gland Neoplasms. Muir-Torre Syndrome is also associated with other visceral malignant Diseases include colorectal, endometrial, urologic [..]

Muscular Pain in numerous Body Regions that can be reproduced by Pressure on Trigger Points, localized hardenings in Skeletal Muscle Tissue. Pain is referred to a location distant from the Trigger Poi [..]

Fetal and neonatal addiction and withdrawal as a result of the Mother's dependence on Drugs during Pregnancy. Withdrawal or abstinence symptoms develop shortly after Birth. Symptoms exhibited are [..]

A condition characterized by severe Proteinuria, greater than 3.5 g/day in an average Adult. The substantial loss of protein in the urine results in complications such as Hypoproteinemia; generalized [..]

Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to Myelin Sheath dysfunction) or axonal loss. The nerve [..]

Rare autosomal recessive Disease with variable expressions. Clinical features of the Disease include variable Ichthyosiform Erythroderma, Congenital; bamboo Hair (trichorrhexis invaginata); and Atopic [..]

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the Skin, Nervous System, and other organs.

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous Mutation and multiple Neurofibromas or Neurilemmomas. Neurofibromatosis 1 (generalized [..]

A potentially fatal Syndrome associated primarily with the use of Neuroleptic Agents (see Antipsychotic Agents) which are in turn associated with dopaminergic receptor blockade (see Receptors, Dopamin [..]

Neurologic Disorders caused by exposure to toxic substances through ingestion, injection, cutaneous application, or other method. This includes conditions caused by biologic, chemical, and pharmaceuti [..]

A Chromosome Instability Syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic Facies and Microcephaly, Patients have a range of findings including Ra [..]

A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, Hypertelorism, hormonal imbalance, Cryptorchidism, multiple cardiac abno [..]

Ocular manifestations secondary to various Neoplasms in which Antibodies to Antigens of the primary Tumor cross-react with ocular Antigens. This autoimmune response often leads to visual loss and othe [..]

Childhood-onset of recurrent Headaches with an oculomotor Cranial Nerve Palsy. Typically, Abducens Nerve; Oculomotor Nerve; and Trochlear Nerve are involved with Diplopia and Blepharoptosis.

Two Syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume Syndrome, Gorlin-Psaume Syndrome) is inherited as an X-linked dominant trait and is found only in females an [..]

Spontaneous DEEP Vein Thrombosis of an Upper Extremity Vein, mostly Axillary Vein; and Subclavian Vein. It is frequently precipitated by repetitive Physical Activity often in young, healthy Adults.

A pleiotropic disorder of Human Development that comprises hypothalamic Hamartoma; central and postaxial Polydactyly; bifid Epiglottis; Anal Atresia; and renal and other abnormalities. This disorder i [..]

A condition caused by an apical Lung Tumor (Pancoast Tumor) with involvement of the nearby Vertebral Column and the Brachial Plexus. Symptoms include Pain in the shoulder and the arm, and Atrophy of t [..]

In Patients with neoplastic Diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by Tumor Cell metabolites or other products.

Degenerative or inflammatory conditions affecting the central or Peripheral Nervous System that develop in Association with a systemic Neoplasm without direct invasion by Tumor. They may be associated [..]

A Syndrome characterized by slowly progressive unilateral Atrophy of facial Subcutaneous Fat, Muscle Tissue, Skin, Cartilage, and bone. The condition typically progresses over a period of 2-10 years a [..]

A Syndrome associated with Inflammation of the Brachial Plexus. Clinical features include severe Pain in the shoulder region which may be accompanied by Muscle Weakness and loss of Sensation in the Up [..]

Growth failure from Birth that is due to Mutations in A Gene (TRIM37) on Chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.

Disorder characterized by a wide range of structural changes in Peritoneum, resulting from fibrogenic or inflammatory processes. Peritoneal Fibrosis is a common complication in Patients receiving Peri [..]

Hypoventilation Syndrome in very obese Persons with excessive Adipose Tissue around the Abdomen and Diaphragm. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPO [..]

Congenital malformation characterized by micrognathia, glossoptosis and Cleft Palate. The mandibular abnormalities often result in difficulties in sucking and Swallowing. The Syndrome may be isolated [..]

A chronic Pelvic Pain characterized by Pain deep in the buttock that may radiate to posterior aspects of the leg. It is caused by the piriformis Muscle compressing or irritating the Sciatic Nerve due [..]

A Syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It Maps to the short arm of Chromosome 4, at 4p16.

A Syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.

A Hereditary Disease caused by autosomal dominant Mutations involving Chromosome 19. It is characterized by the presence of Intestinal Polyps, consistently in the Jejunum, and mucocutaneous Pigmentati [..]

Abdominal symptoms after removal of the Gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as Colic, bloating, Nausea, and Vomiting. There is [..]

The organic and psychogenic disturbances observed after Closed Head Injuries (Head Injuries, Closed). Post-concussion Syndrome includes subjective physical complaints (i.e. Headache, Dizziness), cogni [..]

A condition that is characterized by Headache; Seizures; and visual loss with Edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the Brain Stem. Generally, lesions involve the White m [..]

Sequelae of Gastrectomy from the second week after operation on. Include recurrent or anastomotic Ulcer, postprandial Syndromes (Dumping Syndrome and late Postprandial Hypoglycemia), disordered bowel [..]

A nonspecific Hypersensitivity reaction caused by Trauma to the Pericardium, often following PERICARDIOTOMY. It is characterized by Pericardial Effusion; high titers of anti-Heart Antibodies; low-grad [..]

A condition characterized by a chronically swollen limb, often a leg with stasis Dermatitis and ulcerations. This Syndrome can appear soon after Phlebitis or years later. Postphlebitic Syndrome is the [..]

A Syndrome of Orthostatic Intolerance combined with excessive upright Tachycardia, and usually without associated Orthostatic Hypotension. All variants have in common an excessively reduced venous ret [..]

A form of Frontotemporal Lobar Degeneration and a progressive form of Dementia characterized by motor Speech impairment and AGRAMMATISM, with relative sparing of single word Comprehension and Semantic [..]

A combination of distressing physical, psychologic, or behavioral changes that occur during the Luteal Phase of the Menstrual Cycle. Symptoms of PMS are diverse (such as Pain, Water-Retention, Anxiety [..]

Clinical or physiological indicators that precede the onset of Disease.

Increased levels of Prolactin in the Blood, which may be associated with Amenorrhea and Galactorrhea. Relatively common etiologies include Prolactinoma, medication effect, Kidney Failure, granulomatou [..]

A Syndrome characterized by Dysarthria, Dysphagia, Dysphonia, impairment of voluntary Movements of tongue and Facial Muscles, and emotional lability. This condition is caused by Diseases that Affect t [..]

Rare autosomal recessive Syndrome, characterized by a milder set of clinical features with prolonged Survival, compared to Donohue Syndrome. Mutations in the same Insulin Receptor, mostly in the non-b [..]

A Syndrome characterized by Facial Palsy in Association with a herpetic eruption of the external auditory meatus. This may occasionally be associated with Tinnitus, Vertigo, Deafness, severe Otalgia, [..]

A condition of metabolic imbalance that is caused by complications of initially feeding a severely malnourished Patient too aggressively. Usually occurring within the first 5 days of refeeding, this S [..]

An inherited autosomal recessive trait, characterized by Peripheral Resistance to Thyroid Hormones and the resulting elevation in Serum levels of Thyroxine and Triiodothyronine. This Syndrome is cause [..]

An autosomal recessive familial disorder that usually presents in childhood with Polyneuropathy; Sensorineural Hearing Loss; Ichthyosis; Ataxia; Retinitis Pigmentosa; and Cardiomyopathies. (From Joynt [..]

A disorder also known as partial Androgen Insensitivity Syndrome (PAIS). These Patients exhibit partial resistance to androgenic and metabolic effects of Testosterone.

Historically characterized by a triad of Inflammation involving the eye (CONJUNCTIVITIS), the bone (Post-Infectious Arthritis), and the Urethra (Urethritis), it is now thought to be nearly synonymous [..]

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months [..]

A hereditary deficiency of Blood Coagulation Factor XI (also known as Plasma Thromboplastin Antecedent or PTA or antihemophilic factor C) resulting in a systemic Blood-clotting defect called Hemophili [..]

An autosomal recessive Syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenil [..]

An Association of Diabetes Mellitus with Prader-Willi Syndrome.

Mucopolysaccharidosis characterized by Heparitin Sulfate in the urine, progressive Mental Retardation, mild Dwarfism, and other skeletal disorders. There are four clinically indistinguishable but bioc [..]

Autosomal dominant Syndrome in which there is delayed closing of the Cranial Fontanelles; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of th [..]

An anomalous pulmonary venous return in which the right Pulmonary Vein is not connected to the LEFT ATRIUM but to the Inferior Vena Cava. Scimitar Syndrome is named for the crescent- or Turkish sword- [..]

A congenital Disease caused by an inborn error involving Apolipoproteins E leading to abnormal Lipid Metabolism and the accumulation of Glycosphingolipids, particularly Sphingomyelins in the Histiocyt [..]

A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) Fever >38 degrees C or Hypothermia 90 beat/minute; (3) Tachypnea > [..]

An adverse Drug Interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both Serotonin Reuptake Inhibitors an [..]

A form of Cutaneous T-Cell Lymphoma manifested by generalized exfoliative Erythroderma; Pruritus; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) Cells in the Skin, L [..]

A Syndrome with overlapping clinical features of Systemic Lupus Erythematosus, scleroderma, Polymyositis, and Raynaud's phenomenon. The Disease is differentially characterized by high Serum titer [..]

A Malabsorption Syndrome resulting from extensive operative resection of the Small Intestine, the absorptive region of the Gastrointestinal Tract.

A Syndrome inherited as an autosomal recessive trait and incompatible with Life. The main features are narrow Thorax, short ribs, scapular and pelvic dysplasia, and Polydactyly.

A Syndrome characterized by severe burning Pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most oft [..]

An inherited congenital Myopathic Condition characterized by weakness and Hypotonia in infancy and delayed motor development. Muscle Biopsy reveals a condensation of Myofibrils and myofibrillar materi [..]

A group of symptoms that are two- to three-fold more common in those who Work in large, energy-efficient buildings, associated with an increased frequency of Headaches, Lethargy, and dry Skin. Clinica [..]

Conditions of abnormal Thyroid Hormones release in Patients with apparently normal Thyroid Gland during severe systemic illness, physical Trauma, and psychiatric disturbances. It can be caused by the [..]

A condition caused by dysfunctions related to the Sinoatrial Node including impulse generation (Cardiac Sinus Arrest) and impulse conduction (Sinoatrial Exit Block). It is characterized by persistent [..]

Genetically and clinically heterogeneous disorder characterized by low Birth Weight, postnatal Growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. [..]

Liver Disease that is caused by injuries to the Endothelial Cells of the vessels and subendothelial Edema, but not by Thrombosis. Extracellular Matrix, rich in Fibronectins, is usually deposited aroun [..]

Chronic inflammatory and Autoimmune Disease in which the Salivary and lacrimal glands undergo progressive destruction by Lymphocytes and Plasma Cells resulting in decreased production of Saliva and Te [..]

A disorder characterized by recurrent Apneas during Sleep despite persistent respiratory efforts. It is due to upper Airway Obstruction. The respiratory pauses may induce Hypercapnia or HYPOXIA. Cardi [..]

Excessive periodic leg Movements during Sleep that cause micro-Arousals and interfere with the Maintenance of Sleep. This condition induces a state of relative Sleep Deprivation which manifests as exc [..]

An intermittent and self-limiting Headache Disorder in individuals with Cerebrospinal Fluid Shunts emplaced for the treatment of Hydrocephalus. The symptoms of Headache, Vomiting, and Cranial Neuropat [..]

Mucopolysaccharidosis characterized by excessive dermatan and heparan Sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Complex neurobehavioral disorder characterized by distinctive facial features (Facies), developmental delay and Intellectual Disability. Behavioral Phenotypes include Sleep disturbance, maladaptive, s [..]

A systemic non-inflammatory arteriopathy primarily of middle-Aged females characterized by the Association of Livedo Reticularis, multiple thrombotic Cerebral Infarction; Coronary Disease, and Hyperte [..]

A condition caused by prolonged exposure to excessive Human Growth Hormone in Adults. It is characterized by bony enlargement of the Face; lower jaw (Prognathism); hands; Feet; HEAD; and Thorax. The m [..]

Congenital or postnatal overgrowth Syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bon [..]

Disorder characterized by Nausea, Vomiting, and Dizziness, possibly in response to vestibular disorientation or Fluid Shifts associated with Space Flight. (From Webster's New World Dictionary)

A Disease of Infants due to group 2 Phage type 17 staphylococci that produce an epidermolytic Exotoxin. Superficial fine vesicles and Bullae form and Rupture easily, resulting in loss of large sheets [..]

A degenerative Disease of the Central Nervous System characterized by balance difficulties; Ocular Motility Disorders (supranuclear Ophthalmoplegia); Dysarthria; Swallowing difficulties; and axial Dys [..]

An inherited disorder of Copper Metabolism transmitted as an X-linked trait and characterized by the infantile onset of Hypothermia, feeding difficulties, Hypotonia, Seizures, bony Deformities, pili t [..]

A complex disorder characterized by Infertility, Hirsutism; Obesity; and various menstrual disturbances such as Oligomenorrhea; Amenorrhea; Anovulation. Polycystic Ovary Syndrome is usually associated [..]

A condition characterized by persistent Spasms (Spasm) involving multiple Muscles, primarily in the Lower Limbs and trunk. The illness tends to occur in the fourth to sixth decade of Life, presenting [..]

Compression of the Rotator Cuff Tendons and subacromial bursa between the Humeral Head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated wi [..]

Physiological and psychological symptoms associated with withdrawal from the use of a drug after prolonged administration or habituation. The concept includes withdrawal from Smoking or Drinking, as w [..]

A complication after CHOLEDOCHODUODENOSTOMY when Food, stones, or other debris accumulate in the Common Bile Duct.

A Primary Headache Disorder that is characterized by frequent short-lasting, unilateral, neuralgiform Pain attacks in the ocular area, with Conjunctiva fluid-filling and tearing. SUNCT Syndrome is usu [..]

A rare disorder consisting of microangiopathy of Brain, Retina, and inner ear Arterioles. It is characterized by the clinical triad of encephalopathy, BRANCH Retinal Artery Occlusion and Vertigo/Heari [..]

Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by Fever and dermal infiltration of neutrophilic Leukocytes. It occurs mostly in [..]

A Pneumothorax condition marked by complete absence of markings in the Chest radiograph.

Entrapment of the distal branches of the posterior Tibial Nerve (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the interna [..]

A neurovascular Syndrome associated with compression of the Brachial Plexus; Subclavian Artery; and Subclavian Vein at the superior thoracic outlet. This may result from a variety of anomalies such as [..]

Idiopathic painful nonsuppurative swellings of one or more costal Cartilages, especially of the second rib. The anterior Chest Pain may mimic that of Coronary Artery Disease. (Dorland, 27th ed.)

A Generalized Seizure Disorder characterized by recurrent major motor Seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The [..]

A conditioned chiefly characterized by thickening of the Skin of the head and distal extremities, deep folds and furrows of the Skin of the Forehead, cheeks, and Scalp, Seborrhea, Hyperhidrosis, perio [..]

A neuropsychological disorder related to alterations in Dopamine Metabolism and Neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal Tics need t [..]

A hereditary disorder occurring in two Forms: the complete form (Franceschetti's Syndrome) is characterized by antimongoloid slant of the palpebral fissures, Coloboma of the lower lid, micrognath [..]

A Syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating Lymphoproliferative Disorders. It is characterized by combinations of Hyperuricemia, Lactic Acidos [..]

A Syndrome of multiple abnormalities characterized by the absence or hypoplasia of the Patella and congenital Nail dystrophy. It is a genetically determined autosomal dominant trait.

A Syndrome of defective gonadal development in phenotypic females associated with the Karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated Gonads (streak Gonads), S [..]

An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinic [..]

An autosomal recessive condition characterized by recurrent myoclonic and generalized Seizures, Ataxia, slowly progressive intellectual deterioration, Dysarthria, and Intention Tremor. Myoclonic Seizu [..]

Autosomal recessive hereditary disorders characterized by congenital Sensorineural Hearing Loss and Retinitis Pigmentosa. Genetically and symptomatically heterogeneous, clinical classes include type I [..]

A condition caused by one or more episodes of DEEP Vein Thrombosis, usually the Blood clots are lodged in the Legs. Clinical features include Edema; Pain; aching; heaviness; and Muscle Cramp in the le [..]

An Aphasia characterized by impairment of expressive Language (Speech, Writing, signs) and relative preservation of receptive Language abilities (i.e., Comprehension). This condition is caused by lesi [..]

A Syndrome characterized by bilateral granulomatous Uveitis with Iritis and secondary Glaucoma, premature Alopecia, symmetrical Vitiligo, poliosis circumscripta (a strand of depigmented Hair), Hearing [..]

An autosomal dominant disorder caused by Mutations in a Tumor Suppressor Gene. This Syndrome is characterized by abnormal Growth of small Blood Vessels leading to a host of Neoplasms. They include Hem [..]

Rare, autosomal dominant Disease with variable Penetrance and several known clinical types. Characteristics may include depigmentation of the Hair and Skin, congenital Deafness, heterochromia iridis, [..]

Similar to MEN2a, it is also caused by Mutations of the MEN2 Gene, also known as the RET Proto-Oncogene. Its clinical symptoms include Medullary Carcinoma (Carcinoma, Medullary) of Thyroid Gland and P [..]

A contiguous Gene Syndrome associated with hemizygous deletions of Chromosome region 11p13. The condition is marked by the combination of Wilms Tumor; Aniridia; Genitourinary Abnormalities; and Intell [..]

Infarction of the dorsolateral aspect of Medulla Oblongata in the Brain Stem. It is caused by occlusion of the Vertebral Artery and/or the posterior inferior cerebellar Artery. Clinical manifestations [..]

A form of Long QT Syndrome that is without congenital Deafness. It is caused by Mutation of the KCNQ1 Gene which encodes a protein in the Voltage-Gated Potassium Channel.

A Syndrome characterized by the presence of PULMONARY Stenosis; Cafe-au-Lait Spots; Mental Retardation; and short stature caused by Mutations in the nf1 Gene (Genes, Neurofibromatosis 1).

Rare congenital disorder of Connective Tissue characterized by Brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, Ectopia Lentis; Glaucoma), and proporti [..]

An autosomal recessive disorder that causes Premature Aging in Adults, characterized by sclerodermal Skin changes, Cataracts, subcutaneous calcification, Muscular Atrophy, a tendency to Diabetes Melli [..]

An epileptic Syndrome characterized by the triad of infantile Spasms, hypsarrhythmia, and arrest of psychomotor development at Seizure onset. The majority present between 3-12 months of age, with Spas [..]