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Musculocontractural Ehlers-Danlos syndrome

Disease 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.

ORPHA:2953

Classification level: Disorder
  • Synonym(s):
    • Adducted thumb-clubfoot syndrome
    • Distal arthrogryposis with peculiar facies and hydronephrosis
    • Dündar syndrome
    • Ehlers-Danlos syndrome, Kosho type
    • mcEDS
  • 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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