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Gordon syndrome

Disease definition

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

ORPHA:376

  • Synonym(s):
    • Camptodactyly-cleft palate-clubfoot syndrome
    • Distal arthrogryposis type 3
    • Distal arthrogryposis type IIA
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q68.8
  • OMIM: 114300
  • UMLS: -
  • MeSH: C537288
  • GARD: 2553
  • MedDRA: -

Additional information

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