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Ehlers-Danlos syndrome, musculocontractural type

Synonym(s) ATCS
Adducted thumb-clubfoot syndrome
Adducted thumbs-arthrogryposis syndrome, Dundar type
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
Ehlers-Danlos syndrome, Kosho type
Ehlers-Danlos syndrome, arthrogryposic type
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q79.6
MeSH -
MedDRA -


Disease definition

Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations.

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