Dermochondrocorneal dystrophy

Orpha code: 79149OMIM code: 221800

Definition

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
Classification

Disease

Synonyms
François syndrome
Zespół Françoisa
ORPHA code
79149
OMIM code
221800
ICD10 code
-
ICD11 code
-

No additional description.

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