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Say-Field-Coldwell syndrome

Synonym(s) Triphalangeal thumbs-dislocation of patella syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
  • Q74.8
  • C1860805
  • C536619
MedDRA -


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.

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