Diseases

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.

Deafness progressive cataract autosomal dominant

Deafness progressive cataract autosomal dominant: A rare dominantly inherited disorder characterized by deafness and progressive cataracts. The deafness is caused by degeneration of a part of the inner ear . The hearing loss can start in the 3rd decade of life and cataracts occur before the 5th decade.

Deafness- neurosensory nonsyndromic recessive- DFN

Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The degree of deafness is usually severe and onset is variable but is generally well within the first decade.