Ehlers-Danlos syndrome, musculocontractural type

MONDO:0011142

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: ATCS, CHST14-related EDS, CHST14-related Ehlers-Danlos syndrome, D4ST1-deficient EDS, D4ST1-deficient Ehlers-Danlos syndrome, EDS, Kosho type, EDS, arthrogryposic type, EDS, musculocontractural type

1 clinical trial for this condition and its sub-types, 0 tagged with Ehlers-Danlos syndrome, musculocontractural type itself.

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↑ Cardiogenetic disease (618) ↑ Developmental anomaly of metabolic origin (384) ↑ Ehlers-Danlos syndrome (46) ↑ Congenital disorder of glycosylation (36) ↑ Distal arthrogryposis (3)

Sub-types of Ehlers-Danlos syndrome, musculocontractural type

Ehlers-Danlos syndrome, musculocontractural type 1 0 trials
Ehlers-Danlos syndrome, musculocontractural type 2 0 trials

Including sub-types (1) Tagged with Ehlers-Danlos syndrome, musculocontractural type (0)

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