Coffin–Siris syndrome

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

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.

References

  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. http://jmg.bmj.com/cgi/pmidlookup?view=long&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. 

External links


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Look at other dictionaries:

  • Coffin-Siris syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32018 ICD10 = ICD9 = ICDO = OMIM = 135900 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Coffin Siris Sydrome is a rare genetic disorder which causes mental retardation and absent… …   Wikipedia

  • Coffin-Siris syndrome — Cof·fin Sir·is syndrome (kofґin sirґis) [G.S. Coffin; Evelyn Siris, American radiologist, 1914–1987] see under syndrome …   Medical dictionary

  • Coffin-Siris syndrome — hypoplasia or absence of the nails of the fifth fingers and toes associated with growth and mental deficiencies, coarse facies, mild microcephaly, hypotonia, lax joints, mild hirsutism, and occasionally cardiac, vertebral, or gastrointestinal… …   Medical dictionary

  • Coffin–Lowry syndrome — Coffin Lowry syndrome Classification and external resources ICD 9 759.89 OMIM 303600 DiseasesDB …   Wikipedia

  • Coffin-Lowry syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 2934 ICD10 = ICD9 = ICD9|759.89 ICDO = OMIM = 303600 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D038921 Coffin lowry syndrome was characterised by Coffin (1966) and Lowry (1971) …   Wikipedia

  • Syndrome de coffin-lowry — Ne pas confondre ce syndrome avec le syndrome de Coffin Siris Syndrome de Coffin Lowry Autre nom Aucun Référence MIM …   Wikipédia en Français

  • Syndrome de Coffin-Lowry — Ne pas confondre ce syndrome avec le syndrome de Coffin Siris Syndrome de Coffin Lowry Référence MIM 303600 Transmission Dominante liée à l X Chromosome Xp22.2 p22.1 Gène RPS6KA3 …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Coffin — Grange S., U.S. pediatrician, *1923. See C. Lowry syndrome, C. Siris syndrome …   Medical dictionary

  • Siris — Evelyn, U.S. radiologist, *1914. See Coffin S. syndrome. * * * sputter initiated resonance ionization spectroscopy …   Medical dictionary

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