Diseases

Dandy Walker syndrome

Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. The Dandy-Walker complex is a genetically sporadic disorder that occurs one in every 25,000 live births, mostly in females

Dandy Walker syndrome recessive form

Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.

Dandy Walker variant

Dandy-Walker syndrome refers to a group of specific, congenital (present at birth) brain malformations, and is a common cause of hydrocephalus (increased fluid in the brain).

Daneman Davy Mancer syndrome

Daneman Davy Mancer syndrome: A very rare syndrome characterized mainly by kidney, thyroid and finger and toea abnormalities

Danubian endemic familial nephropathy

Danubian endemic familial nephropathy (DEFN), sometimes called Balkan endemic nephropathy,is a form of interstitial nephritis. It was first identified in the 1920s among several small, discrete communities along the Danube River and its major tributaries, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.

Darier’s disease

Darier's disease is a genetic disorder discovered by French dermatologist Ferdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis.

Davenport Donlan syndrome

Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.

Davis Lafer syndrome

Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.

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De Barsy syndrome

De Barsy syndrome (medical condition): A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements,

De Hauwere Leroy Adriaenssens syndrome

De Hauwere Leroy Adriaenssens syndrome: A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye. More detailed information about the

De Quervains’ disease

de Quervain syndrome (also known as washerwoman's sprain, Radial styloid tenosynovitis, de Quervain disease, de Quervain's tenosynovitis, de Quervain's stenosing tenosynovitis or mother's wrist), is an inflammation or a tendinosis of the sheath or tunnel that surrounds two tendons that control movement of the thumb.

De Sanctis-Cacchione syndrome

De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.

Deafness conductive stapedial ear malformation facial palsy

Deafness conductive stapedial ear malformation facial palsy: A rare disorder characterized by conductive deafness, malformed external ears and facial paralysis. The deafness is due to an abnormal bone (stapes) in the inner ear which vibrates to transmit sound messages.

Deafness craniofacial syndrome

Deafness - craniofacial syndrome: A very rare syndrome characterized mainly by deafness and abnormalities of the skull and face.

Deafness enamel hypoplasia nail defects

Deafness enamel hypoplasia nail defects (medical condition): A very rare syndrome characterized mainly by deafness, tooth enamel abnormalities and nail defects.

Deafness epiphyseal dysplasia short stature

Deafness - epiphyseal dysplasia - short stature: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thing bone abnormalities.

Deafness goiter stippled epiphyses

Deafness - goiter - stippled epiphyses: A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.

Deafness hyperuricemia neurologic ataxia

Deafness hyperuricemia neurologic ataxia: A rare inherited disorder characterized by a high level of uric acid in the blood, renal insufficiency, ataxia and deafness.

Deafness nonsyndromic- Connexin 26 linked

Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3 involves a defect in the connexin-26 gene on chromosome 13q11-q12.