Seckel syndrome

Common Name(s)

Seckel syndrome

Seckel syndrome is a genetic disorder characterized by growth retardation, microcephaly with mental retardation, and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. Blood abnormalities with chromosome breakage may be present in less than 25% of individuals who have Seckel syndrome.  The signs and symptoms of Seckel syndrome may be similar to those of another condition called microcephalic osteodysplastic primordial dwarfism type II (MOPD II); however, MOPD II is associated with abnormalities of the bones, which can be identified by performing X-rays during the first years of life.

Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be called Seckel syndrome type 1 when it is caused by a mutation in the SCKL1 gene, Seckel syndrome type 2 when caused by a mutation in the SCKL2 gene, and Seckel syndrome type 3 when caused by a mutation in the SCKL3 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Seckel syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Seckel syndrome" returned 17 free, full-text research articles on human participants. First 3 results:

Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts.
 

Author(s): Hannah S E Tivey, Michal J Rokicki, James R Barnacle, Matthew J Rogers, Mark C Bagley, David Kipling, Terence Davis

Journal: J. Gerontol. A Biol. Sci. Med. Sci.. 2013 Sep;68(9):1001-9.

 

Ataxia-telangiectasia and rad3 (ATR)-related Seckel syndrome is associated with growth retardation and premature aging features. ATR-Seckel fibroblasts have a reduced replicative capacity in vitro and an aged morphology that is associated with activation of stress-associated p38 mitogen-activated ...

Last Updated: 9 Aug 2013

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Seckel syndrome: a report of a case.
 

Author(s): K Ramalingam, S D Kaliyamurthy, M Govindarajan, S Swathi

Journal: J Indian Soc Pedod Prev Dent. ;30(3):258-61.

 

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like ...

Last Updated: 24 Dec 2012

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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
 

Author(s): Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo

Journal: PLoS Genet.. 2012 ;8(11):e1002945.

 

A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations in ATRIP, the gene encoding ...

Last Updated: 12 Nov 2012

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Reviews from the PubMed Database

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The terms "Seckel syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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