Seckel syndrome

From Wikipedia, the free encyclopedia

This article does not cite any references or sources. (January 2007) Please help improve this article by adding citations to reliable sources. Unverifiable material may be challenged and removed.

Seckel syndrome Classification and external resources
ICD-10	Q87.1
OMIM	210600
DiseasesDB	31625

The Seckel syndrome or microcephalic primordial dwarfism is a congenital nanosomic disorder supposed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.

[edit] Symptoms

Symptoms include:

• severe mental retardation (more than half of the patients have an IQ below 50)
• achondroplasia
• microcephaly
• sometimes pancytopenia
• cryptorchidism
• low birth weight
• dislocations of pelvis and elbow
• unusually large eyes
• low ears
• small chin

[edit] External links

• synd/869 at Who Named It

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7) Facial Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia Short stature Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome Limbs Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association Overgrowth Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome Collagen Alport syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome