Ehlers-Danlos syndrome, musculocontractural type

Ehlers-Danlos syndrome, musculocontractural type

Definition

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

Also known as adducted thumb-clubfoot syndrome, adducted thumbs-arthrogryposis syndrome, Dundar type, ATCS, CHST14-related EDS, CHST14-related Ehlers-Danlos syndrome, D4ST1-deficient EDS, D4ST1-deficient Ehlers-Danlos syndrome, EDS, arthrogryposic type, EDS, Kosho type, EDS, musculocontractural type, Ehlers-Danlos syndrome, arthrogryposic type, Ehlers-Danlos syndrome, Kosho type, MCEDS, musculocontractural Ehlers-Danlos syndrome — per MONDO

Also identified as