Coffin-Siris syndrome

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 fifth finger and toe nails.

Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.

Characteristics

* feeding difficulties upon birth
* frequent respiratory infections during infancy
* hypotonia
* joint laxity
* delayed bone age
* mental retardation
* short fifth digits with hypoplastic or absent nails
* 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.

External links

* [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1465 Coffin-Siris syndrome] on Orphanet
* [http://children.webmd.com/Coffin-Siris-Syndrome Coffin Siris] at WebMD
*


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  • 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

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  • 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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