Coffin-Siris syndrome

What is Coffin-Siris syndrome?

A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.

Other condition names

  • CSS

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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