Coffin–Siris syndrome

Coffin–Siris syndrome
Other namesDwarfism-onychodysplasia, fifth digit syndrome, mental retardation with hypoplastic 5th fingernails and toenails, short stature-onychodysplasia
Coffin–Siris syndrome is inherited in an autosomal dominant manner

Coffin–Siris syndrome (CSS), first described in 1970 by Dr Grange S. Coffin and Dr E. Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991. The number of occurrences since then has grown and is now reported to be around 200.

The differential includes Nicolaides–Baraitser syndrome.

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