" /> Restrictive dermopathy 1 - CISMeF





Preferred Label : Restrictive dermopathy 1;

Symbol : RSDM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperkeratosis-contracture syndrome; Fetal hypokinesia sequence due to restrictive dermopathy; Tight skin contracture syndrome, lethal; Restrictive dermopathy 1, lethal;

Description : Restrictive dermopathy is a rare, 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 joint 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 (summary by Smigiel et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc metalloproteinase STE24 gene (ZMPSTE24, 606480.0003); Caused by mutation in the lamin A/C gene (LMNA, 150330.0022);

Prefixed ID : #275210;

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30/07/2025


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