Restrictive dermopathy

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Restrictive dermopathy

Synonyms: Lethal hyperkeratosis-contracture syndrome | Lethal restrictive dermopathy | Lethal tight skin-contracture syndrome

A congenital genodermatosis with skin/mucosae involvement characterized by very tight and thin skin with erosions and scaling associated to a typical facial dysmorphism arthrogryposis multiplex fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.

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 Data version April 2024

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Restrictive dermopathy?

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