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
-
- GARD:1516
- MESH:C536920
- MIM:PS275210
- ORDO:1662
- SNOMEDCT_US_2023_03_01:400128006
- UMLS_CUI:C0406585
- Ontology
- Human Disease ( DOID:0060762 )
- is a type of
-
- has subtype
-
Other Pages
Genes Involved
Zebrafish Models