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Genetic and Rare Diseases Information Center (GARD)

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Muenke Syndrome


Other Names for this Disease

  • Muenke nonsyndromic coronal craniosynostosis
  • Syndrome of coronal craniosynostosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Muenke syndrome?

What are the signs and symptoms of Muenke syndrome?

What causes Muenke syndrome?

How might Muenke syndrome be treated?

What is 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.[1][2] 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.[1]  
Last updated: 10/3/2011

What are the signs and symptoms of Muenke syndrome?

Many people with Muenke syndrome have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull may be affected as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an enlarged head (macrocephaly). Some people with Muenke syndrome have mild abnormalities of the hands or feet.[1] Hearing loss is present in about one third of patients.[1][3] While most people with this condition have normal intellect, developmental delay and learning disabilities have been reported.[1]

The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the FGFR3 gene mutation do not have any of the characteristic features of the disorder.[1]

Last updated: 10/3/2011

What causes Muenke syndrome?

Muenke syndrome is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.[1]
Last updated: 10/3/2011

How might Muenke syndrome be treated?

Children with Muenke syndrome are best managed by a pediatric craniofacial clinic where a team of health care professionals, including a craniofacial surgeon and neurosurgeon, medical geneticist, ophthalmologist, otolaryngologist, pediatrician, radiologist, psychologist, dentist, audiologist, speech therapist, and social worker may work to address their individuals needs. Depending on severity, the first craniosynostosis repair may be performed between ages three and six months. Early surgery may reduce the risk for complications. Follow-up surgeries and/or other medical procedures may be needed.[3]
Last updated: 10/3/2011

References
  1. Muenke syndrome. Genetics Home Reference (GHR). June 2006; http://ghr.nlm.nih.gov/condition/muenke-syndrome. Accessed 10/3/2011.
  2. Muenke syndrome. Orphanet. January 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53271. Accessed 10/3/2011.
  3. Agochukwu NB, Doherty ES, Muenke M. Muenke Syndrome. Genereviews. December 7, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1415/. Accessed 10/3/2011.


Other Names for this Disease
  • Muenke nonsyndromic coronal craniosynostosis
  • Syndrome of coronal craniosynostosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.