Dermochondrocorneal dystrophy

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Synonyms: François syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Clinical Trials

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