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Sillence syndrome

Synonym(s) Brachydactyly-symphalangism syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • Q74.8
  • C1862092
  • C537338
MedDRA -


Disease definition

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.

Genetic counseling

Transmission appears to be autosomal dominant.

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