Search Ontology:
Human Disease

restrictive dermopathy

Term ID
DOID:0060762
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 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models