Coffin–Siris syndrome
From Infogalactic: the planetary knowledge core
| Coffin–Siris syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 135900 |
| DiseasesDB | 32018 |
| Patient UK | Coffin–Siris syndrome |
Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays 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.
There had been 31 reported cases by 1991.[1] The numbers of occurrence since then has grown and is reported to be around 80.[2]
The differential includes Nicolaides–Baraitser syndrome.[3]
Characteristics
- mild to severe intellectual disability,[4][5] also called "developmental disability"[6]
- 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 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.[7]
Mutations in SOX11 are associated to this syndrome.[8]
References
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- ↑ Vals MA, Oiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Ann Kivistik P, Metspalu A, Ounap K (2014) Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. Eur J Hum Genet doi:10.1038/ejhg.2014.25
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
