Coffin–Siris syndrome
(Redirected from Coffin-Siris syndrome)
| Coffin–Siris syndrome | |
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| Synonyms | Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, Short Stature-Onychodysplasia |
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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.[1] The number of occurrences since then has grown and is now reported to be around 80.[2]
The differential includes Nicolaides–Baraitser syndrome.[3]
Presentation[edit | edit source]
- 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[edit | edit source]
Autosomal dominant inheritance is the most likely, usually by de novo mutation.
This syndrome has been associated with mutations in the ARID1B gene.[7]
Mutations in SOX11 are associated to this syndrome.[8]
A second gene that has been associated with this syndrome is the AT-rich interaction domain 2 (ARID2) gene.[9]
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.
Diagnosis[edit | edit source]
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (January 2018) |
Treatment[edit | edit source]
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.
References[edit | edit source]
- ↑ , Coffin-Siris syndrome, Journal of Medical Genetics, Vol. 28(Issue: 5), pp. 338–41, DOI: 10.1136/jmg.28.5.338, PMID: 1865473, PMC: 1016855,
- ↑ Twisted spine girl back playing football Full text, metrowebukmetro, , 2008-10-13, Accessed on: 13 June 2015.
- ↑ , Nicolaides-Baraitser syndrome: Delineation of the phenotype, American Journal of Medical Genetics. Part A, Vol. 149A(Issue: 8), pp. 1628–40, DOI: 10.1002/ajmg.a.32956, PMID: 19606471,
- ↑ Coffin-Siris syndrome Full text, , 8 June 2015, Accessed on: 13 June 2015.
- ↑ NIH researchers sequence healthy volunteers' DNA and find they aren't so healthy after all Full text, Cha, Ariana Eunjung, , 4 June 2015, Accessed on: 13 June 2015.
- ↑ Greenville: A home of one's own - Ledger Transcript Full text, , 2015-05-14, Accessed on: 13 June 2015.
- ↑ , Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene, European Journal of Human Genetics, Vol. 22(Issue: 11), pp. 1327–9, DOI: 10.1038/ejhg.2014.25, PMID: 24569609, PMC: 4200437,
- ↑ , De novo SOX11 mutations cause Coffin-Siris syndrome, Nature Communications, Vol. 5 pp. 4011, DOI: 10.1038/ncomms5011, PMID: 24886874,
- ↑ , Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients, European Journal of Medical Genetics, Vol. 62(Issue: 1), pp. 27–34, DOI: 10.1016/j.ejmg.2018.04.014, PMID: 29698805, Full text,
External links[edit | edit source]
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