Coffin–Siris syndrome

Coffin–Siris syndrome
Synonyms	Dwarfism-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
Classification and external resources
ICD-10	Q87.1
OMIM	135900
DiseasesDB	32018
MeSH	C536436
Orphanet	1465
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Coffin–Siris Syndrome 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 numbers of occurrence since then has grown and is reported to be around 80.

The differential includes Nicolaides–Baraitser syndrome.

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

This syndrome has been associated with mutations in the ARID1B gene.

Mutations in SOX11 are associated to this syndrome.

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