MeSH Browser

MeSH Supplementary: Tight skin contracture syndrome, lethal
Unique ID: C536920
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536920
Entry Term(s): Fetal hypokinesia sequence due to restrictive dermopathy; Hyperkeratosis-contracture syndrome; Restrictive dermopathy, lethal
Registry Number: 0
Heading Mapped to: Contracture / *congenital; *Skin Abnormalities
Frequency: 20
Note: A rare, hereditary, autosomal recessive, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized ANKYLOSIS. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, POLYHYDRAMNIOS, and premature rupture of the membranes. Most infants die within the first week of life. Mutations in the ZMPSTE24 and LMNA genes have been identified. OMIM: 275210
Date of Entry: 2010/08/25
Revision Date: 2016/07/07

Tight skin contracture syndrome, lethal MeSH Supplementary Concept Data 2024