Muenke Syndrome

Common Name(s)

Muenke Syndrome

Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke syndrome is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant pattern.   
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muenke Syndrome" for support, advocacy or research.

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

Last Updated: 19 Nov 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muenke Syndrome" for support, advocacy or research.

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

http://www.cappskids.org/

Last Updated: 19 Nov 2014

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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 "Muenke Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Phenotype profile of a genetic mouse model for Muenke syndrome.
 

Author(s): Hyun-Duck Nah, Eiki Koyama, Nneamaka B Agochukwu, Scott P Bartlett, Maximilian Muenke

Journal: Childs Nerv Syst. 2012 Sep;28(9):1483-93.

 

The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. Muenke syndrome is characterized by coronal suture synostosis, midface hypoplasia, subtle limb anomalies, and hearing loss. However, the spectrum ...

Last Updated: 8 Aug 2012

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Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.
 

Author(s): Nneamaka B Agochukwu, Benjamin D Solomon, Anna Zajaczkowska-Kielska, Christopher J Lyons, Travis Pollock, Ash Singhal, Margot I Van Allen, Maximilian Muenke

Journal: Childs Nerv Syst. 2011 Dec;27(12):2183-6.

 

Last Updated: 17 Nov 2011

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A Korean family with the Muenke syndrome.
 

Author(s): Jae Eun Yu, Dong Ha Park, Soo Han Yoon

Journal: J. Korean Med. Sci.. 2010 Jul;25(7):1086-9.

 

The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately ...

Last Updated: 1 Jul 2010

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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 "Muenke Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
 

Author(s): Nneamaka B Agochukwu, Benjamin D Solomon, Laurel J Benson, Maximilian Muenke

Journal: Am. J. Med. Genet. A. 2013 Mar;161A(3):453-60.

 

Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. Muenke syndrome is characterized by coronal craniosynostosis (bilateral more often than unilateral), hearing loss, developmental ...

Last Updated: 25 Feb 2013

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Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
 

Author(s): Nneamaka B Agochukwu, Benjamin D Solomon, Andrea L Gropman, Maximilian Muenke

Journal: Pediatr. Neurol.. 2012 Nov;47(5):355-61.

 

Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic syndromes. Muenke syndrome is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal craniosynostosis, ...

Last Updated: 9 Oct 2012

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Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
 

Author(s): Nneamaka Barbara Agochukwu, Benjamin D Solomon, Emily S Doherty, Maximilian Muenke

Journal: J Craniofac Surg. 2012 May;23(3):664-8.

 

Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our ...

Last Updated: 28 May 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
 

Status: Recruiting

Condition Summary: Craniosynostosis; Muenke Syndrome

 

Last Updated: 11 Nov 2014

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