Dermochondrocorneal dystrophy

Orpha code: 79149OMIM code: 221800

Definicja

Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.

Disease data
Klasyfikacja

Disease

Synonimy
François syndrome
Zespół Françoisa
Kod ORPHA
79149
Kod OMIM
221800
Kod ICD10
-
Kod ICD11
-

No additional description.

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