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Restrictive dermopathy

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Lethal hyperkeratosis-contracture syndrome
    • Lethal restrictive dermopathy
    • Lethal tight skin-contracture syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q82.8
  • OMIM: 275210
  • UMLS: C0406585
  • MeSH: -
  • GARD: 1516
  • MedDRA: -

Detailed information


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