Weber-Cockayne syndrome


Web·er-Cock·ayne syn·drome

(web'ĕr kok'ān), epidermolysis bullosa of the hands and feet; autosomal dominant inheritance, caused by mutation in the keratin 5 gene (KRT5) on chromosome 12q or keratin 14 gene (KRT14) on 17q.

Web·er-Cock·ayne syn·drome

(web'ĕr kok'ān), epidermolysis bullosa of the hands and feet; autosomal dominant inheritance, caused by mutation in the keratin 5 gene (KRT5) on chromosome 12q or keratin 14 gene (KRT14) on 17q.

Web·er-Cock·ayne syn·drome

(web'ĕr-kok-ān' sin'drōm) A form of epidermolysis bullosa with only the hands and feet affected.

Cockayne,

Edward Alfred, English physician, 1880-1956. Cockayne disease - Synonym(s): Cockayne syndromeCockayne syndrome - dwarfism, senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, and mental retardation. Synonym(s): Cockayne diseaseWeber-Cockayne syndrome - see under Weber, Frederick Parkes

Weber,

Frederick Parkes, English physician, 1863-1962. Klippel-Trenaunay-Weber syndrome - see under KlippelRendu-Osler-Weber syndrome - see under RenduSturge-Kalischer-Weber syndrome - Synonym(s): Sturge-Weber syndromeSturge-Weber disease - Synonym(s): Sturge-Weber syndromeSturge-Weber syndrome - see under SturgeWeber-Christian disease - a group of conditions with recurrent subcutaneous nodules, with or without fever or suppuration, followed by depression of the overlying skin. Synonym(s): Christian disease (2); nodular nonsuppurative panniculitisWeber-Cockayne syndrome - epidermolysis bullosa of the hands and feet.