Coffin–Siris syndrome

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 number of occurrences since then has grown and is now reported to be around 80. 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 number of occurrences since then has grown and is now 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. A second gene that has been associated with this syndrome is the AT-rich interaction domain 2 (ARID2) gene.