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.

The differential includes Nicolaides–Baraitser syndrome.

Presentation

• mild to severe intellectual disability, also called "developmental disability"
• short fifth digits with hypoplastic or absent nails
• low birth weight
• feeding difficulties upon birth
• frequent respiratory infections during infancy
• hypotonia
• joint laxity
• delayed bone age
• microcephaly
• coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes

Causes

Autosomal dominant inheritance is the most likely, usually by de novo mutation.

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.

The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the causative genes. Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding.

Treatment

There is no known cure or standard for treatment. Treatment is based on symptoms and may include physical, occupational and speech therapy and educational services as well.

External links

• Coffin–Siris syndrome on Orphanet
• synd/3426 at Who Named It?

Classification	ICD-10: Q87.1 OMIM: 135900 MeSH: C536436 DiseasesDB: 32018 SNOMED CT: 10007009
External resources	Orphanet: 1465