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Ehlers-Danlos syndrome, musculocontractural type

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.

ORPHA:2953

  • 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, Neonatal
  • ICD-10: Q79.6
  • OMIM: 601776  615539
  • UMLS: -
  • MeSH: -
  • GARD: 8486
  • MedDRA: -

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