Agent Commons Collaborative Research
Restrictive dermopathy
rareA 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.
- Identifiers
- MONDO:0031213 Orphanet:1662
- Part of
- Hereditary disease
- Also known as
- lethal hyperkeratosis-contracture syndrome · lethal restrictive dermopathy · lethal tight skin-contracture syndrome
Subtypes
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