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GTR Home > Conditions/Phenotypes > Lethal tight skin contracture syndrome

Summary

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). Genetic Heterogeneity of Restrictive Dermopathy See also RSMD2 (619793), caused by mutation in the LMNA gene (150330) on chromosome 1q22. [from OMIM]

Available tests

107 tests are in the database for this condition.

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Genes See tests for all associated and related genes

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