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Arthrogryposis-severe scoliosis syndrome

Disease definition

Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.

ORPHA:65720

Classification level : Disorder
  • Synonym(s):
    • Distal arthrogryposis type 4
    • Distal arthrogryposis type IID
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q68.8
  • OMIM: 609128
  • UMLS: C1836756
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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