OBO ID: DOID:0060762
Term Name: restrictive dermopathy Search Ontology:
Synonyms:
  • hyperkeratosis-contracture syndrome
  • Infantile restrictive dermopathy
  • lethal restrictive dermopathy
  • Lethal tight skin contracture syndrome
  • tight skin contracture syndrome
Definition: A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (2)
References:
Ontology: Human Disease   ( DOID:0060762 )
OTHER restrictive dermopathy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None