| 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/20101687, https://www.ncbi.nlm.nih.gov/pubmed/15317753 |
| Xrefs |
SNOMEDCT_US_2023_03_01:400128006 |
| SKOS |
exactMatch GARD:1516 exactMatch MESH:C536920 exactMatch SNOMEDCT_US_2023_02_28:400128006 exactMatch UMLS_CUI:C0406585 exactMatch ORDO:1662 exactMatch MIM:PS275210 |
| 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 |