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restrictive dermopathy
Summary
- Synonym
-
- Infantile restrictive dermopathy
- Lethal tight skin contracture syndrome
- hyperkeratosis-contracture syndrome
- lethal restrictive dermopathy
- 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.
- Super Class
- skin disease
External Links
- Disease Ontology
- DOID:0060762
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P47931 | Follistatin |
