Coffin–Siris syndrome

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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[edit]

  • 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[edit]

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[edit]

  1. ^ 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. 
  2. ^ [1]
  3. ^ 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. 
  4. ^ 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
  5. ^ 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.  edit

External links[edit]