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Sillence syndrome

Orpha number ORPHA3168
Synonym(s) Brachydactyly-symphalangism syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q74.8
OMIM
UMLS
  • C1862092
MeSH
  • C537338
MedDRA -
SNOMED CT -

Summary

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.


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