" /> Lethal congenital contracture syndrome 1 - CISMeF





Preferred Label : Lethal congenital contracture syndrome 1;

Symbol : LCCS1;

CISMeF acronym : LCCS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple contracture syndrome, finnish type; LCCS;

Description : Autosomal recessive lethal congenital contractural syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108110), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). - Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); and LCCS5 (615368), caused by mutation in the DNM2 gene (602378).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Gle1, (S. cerevisiae) RNA export mediator gene (GLE1, 603371.0001);

Prefixed ID : #253310;

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30/07/2025


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