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;
Origin ID : 601776;
UMLS CUI : C1866294;
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)