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Sheldon-Hall syndrome

Disease definition

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

ORPHA:1147

  • Synonym(s):
    • Distal arthrogryposis type 2B
    • Freeman-Sheldon syndrome variant
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q68.8
  • OMIM: 601680  616266
  • UMLS: C1834523
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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