| Metadata | |
|---|---|
| ID | DOID:0060762 |
| Name | restrictive dermopathy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15317753, https://www.ncbi.nlm.nih.gov/pubmed/20101687 |
| Xrefs |
SNOMEDCT_US_2023_03_01:400128006 |
| Subsets |
DO_rare_slim |
| Synonyms |
hyperkeratosis-contracture syndrome [EXACT] Infantile restrictive dermopathy [EXACT] lethal restrictive dermopathy [EXACT] Lethal tight skin contracture syndrome [EXACT] tight skin contracture syndrome [EXACT] |
| Parent Relationships |
is_a skin disease |