/Ehlers-Danlos syndrome, musculocontractural type

Ehlers-Danlos syndrome, musculocontractural type

Rare Disease

MONDO:0011142

Also Known As

ATCSCHST14-related EDSCHST14-related Ehlers-Danlos syndromeD4ST1-deficient EDSD4ST1-deficient Ehlers-Danlos syndromeEDS, Kosho typeEDS, arthrogryposic typeEDS, musculocontractural typeEhlers-Danlos syndrome, Kosho typeEhlers-Danlos syndrome, arthrogryposic typeMCEDSadducted thumb-clubfoot syndromeadducted thumbs-arthrogryposis syndrome, Dundar typemusculocontractural Ehlers-Danlos syndromeDundar syndromeEDS6B, formerlyEDSMCEDSMC1EDSmcEhlers-Danlos syndrome, musculocontractural type 1Ehlers-Danlos syndrome, musculocontractural type, 1Ehlers-Danlos syndrome, type VIB, formerlyEhlers-Danlos syndrome, type VibEhlers-Danlos syndrome, type Vib, formerlyadducted thumb clubfoot syndromeadducted thumb, clubfoot, and progressive joint and skin laxity syndromeadducted thumb-club foot syndromeadducted thumbs Dundar typearthrogryposis, distal, with peculiar facies and hydronephrosisautosomal recessive adducted thumb-club foot syndromemusculocontractural EDS

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.