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 20 free, full-text research articles on human participants. First 3 results:

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.
 

Author(s): Tuba Dinçer, Gülden Yorgancıoğlu-Budak, Akgün Ölmez, İdris Er, Yavuz Dodurga, Özmert Ma Özdemir, Bayram Toraman, Adem Yıldırım, Nuran Sabir, Nurten A Akarsu, C Nur Semerci, Ersan Kalay

Journal: Eur. J. Hum. Genet.. 2017 10;25(10):1118-1125.

 

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome. Using genome-wide SNP genotyping ...

Last Updated: 31 Dec 1969

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Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge.
 

Author(s): Anju Grewal, Dinesh Sood, Nidhi Bhatia, Ramneesh Garg, Sheerin Shah, Harminder Kaur

Journal: Braz J Anesthesiol. ;64(3):216-8.

 

Last Updated: 31 Dec 1969

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Seckel syndrome: a rare case report.
 

Author(s): Rinky Sisodia, Ravi Kadur Sundar Raj, Vipin Goel

Journal: J Indian Soc Pedod Prev Dent. ;32(2):160-3.

 

Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic ...

Last Updated: 31 Dec 1969

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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