" /> Ehlers-danlos syndrome, musculocontractural type, 1 - CISMeF





Preferred Label : Ehlers-danlos syndrome, musculocontractural type, 1;

Symbol : EDSMC1;

CISMeF acronym : EDSMC; EDS6B; EDSMC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adducted thumb-clubfoot syndrome; Dundar syndrome; ATCS; EDS6B; Adducted thumb, clubfoot, and progressive joint and skin laxity syndrome; Ehlers-danlos syndrome, type vib; EDSMC; Arthrogryposis, distal, with peculiar facies and hydronephrosis;

Description : The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998). The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement (summary by Malfait et al., 2010). - Genetic Heterogeneity of Musculocontractural Ehlers-Danlos Syndrome Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2; 615539) is caused by mutation in the DSE gene (605942) on chromosome 6q22.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbohydrate sulfotransferase-14 gene (CHST14, 608429.0001);

Prefixed ID : #601776;

Détails


Vous pouvez consulter :


Nous contacter.
24/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.