Coffin–Siris syndrome
| Coffin–Siris syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 135900 |
| DiseasesDB | 32018 |
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] at present there are 160 children diagnosed who are members in the Coffin Siris Support group on Facebook.
The differential includes Nicolaides–Baraitser syndrome.[3]
Characteristics
- 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
- moderate to severe learning difficulties
- global development delay
- 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.[4]
Mutations in SOX11 are associated to this syndrome.[5]
References
- ↑ Levy P, Baraitser M (May 1991). "Coffin–Siris syndrome". J. Med. Genet. 28 (5): 338–41. doi:10.1136/jmg.28.5.338. PMC 1016855. PMID 1865473.
- ↑
- ↑ Sousa SB, Abdul-Rahman OA, Bottani A et al. (August 2009). "Nicolaides–Baraitser syndrome: Delineation of the phenotype". Am. J. Med. Genet. A 149A (8): 1628–40. doi:10.1002/ajmg.a.32956. PMID 19606471.
- ↑ 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
- ↑ Tsurusaki, Y; Koshimizu, E; Ohashi, H; Phadke, S; Kou, I; Shiina, M; Suzuki, T; Okamoto, N; Imamura, S; Yamashita, M; Watanabe, S; Yoshiura, K; Kodera, H; Miyatake, S; Nakashima, M; Saitsu, H; Ogata, K; Ikegawa, S; Miyake, N; Matsumoto, N (2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications 5: 4011. doi:10.1038/ncomms5011. PMID 24886874.
External links
- Coffin–Siris syndrome on Orphanet
- Coffin–Siris at WebMD
- synd/3426 at Who Named It?
- Cof