Coffin-Siris syndrome

Coffin-Siris syndrome

Coffin-Siris Sydrome is a rare genetic disorder which causes mental retardation and absent fifth finger and toe nails.

Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.


  • feeding difficulties upon birth
  • frequent respiratory infections during infancy
  • hypotonia
  • joint laxity
  • delayed bone age
  • mental retardation
  • short fifth digits with hypoplastic or absent nails
  • microcephaly
  • coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes


Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.

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