Coffin–Siris syndrome
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(Redirected from Coffin-Siris syndrome)
| Coffin-Siris syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 135900 |
| DiseasesDB | 32018 |
Coffin-Siris Syndrome is a rare genetic disorder which 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 were 31 reported cases as of 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]
Contents |
[edit] 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
[edit] Causes
Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.
[edit] 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. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=1865473.
- ^ [1]
- ^ 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.
