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Say-Field-Coldwell syndrome

Disease definition

Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.

ORPHA:3133

Classification level: Disorder
  • Synonym(s):
    • Triphalangeal thumbs-dislocation of patella syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q74.8
  • OMIM: 190650
  • UMLS: C1860805
  • MeSH: C536619
  • GARD: 242
  • MedDRA: -
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