Miller-Dieker syndrome

Common Name(s)

Miller-Dieker syndrome

Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities.  Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Miller-Dieker 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 "Miller-Dieker syndrome" returned 20 free, full-text research articles on human participants. First 3 results:

[Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome].
 

Author(s): S Laurito, E Goldschmidt, M Marquez, M Roque

Journal: Rev Neurol. 2011 Feb;52(3):189-91.

 

Last Updated: 2 Feb 2011

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Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.
 

Author(s): Young Jin Kim, Shin Yun Byun, Seon A Jo, Yong Beom Shin, Eun Hae Cho, Eun Yup Lee, Sang-Hyun Hwang

Journal: Korean J Lab Med. 2011 Jan;31(1):49-53.

 

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p ...

Last Updated: 17 Jan 2011

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[Miller-Dieker syndrome].
 

Author(s): G Iglesias Escalera, M L Carrasco Marina, F Martín Del Valle, N Martínez Guardia, L Rodríguez, M L Martínez-Fernández

Journal: An Pediatr (Barc). 2009 Mar;70(3):304-6.

 

Last Updated: 4 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Miller-Dieker syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.
 

Author(s): Jessica Yingling, Kazuhito Toyo-Oka, Anthony Wynshaw-Boris

Journal: Am. J. Hum. Genet.. 2003 Sep;73(3):475-88.

 

Last Updated: 20 Aug 2003

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
 

Status: Recruiting

Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities

 

Last Updated: 28 Oct 2014

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