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Muenke syndrome

Reviewed June 2006

What is Muenke syndrome?

Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.

Many people with this disorder 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 malformed 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). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. Most people with this condition have normal intellect, but developmental delay and learning disabilities are possible.

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 gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.

How common is Muenke syndrome?

Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.

What genes are related to Muenke syndrome?

Mutations in the FGFR3 gene cause Muenke syndrome.

The FGFR3 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 is responsible for Muenke syndrome. This mutation 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.

How do people inherit Muenke syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about treatment for Muenke syndrome?

You may find information on treatment or management of Muenke syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Muenke syndrome?

You may find the following resources about Muenke syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)
    • Health Topic: Facial Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html)
    • Health Topic: Head and Brain Malformations (http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm)
  • Educational resources - Information pages
    • Center for Craniofacial Development and Disorders, Johns Hopkins Medicine (http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?MUArticleID=64&Source=Family)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=53271)
    • UC Davis Children's Hospital (http://www.ucdmc.ucdavis.edu/children/clinical_services/cleft_craniofacial/anomalies/craniosynostosis.html)
  • Patient support - For patients and families
    • Children's Craniofacial Association (http://www.ccakids.com)
    • Let's Face It (http://www.dent.umich.edu/faceit/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/craniofa.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary
    • Gene Review: FGFR-Related Craniosynostosis Syndromes (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
    • Gene Review: Muenke Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=muenke)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=15665)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22craniosynostoses%22+OR+%22muenke+syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((muenke+syndrome)+OR+(fgfr3-associated+coronal+synostosis)+OR+(muenke+nonsyndromic+coronal+craniosynostosis)+OR+(adelaide-type+craniosynostosis))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=2520+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602849)

What other names do people use for Muenke syndrome?

  • FGFR3-associated coronal synostosis
  • Muenke nonsyndromic coronal craniosynostosis

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Muenke syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Muenke syndrome?

autosomal ; autosomal dominant ; cell ; coronal ; coronal suture ; craniosynostosis ; developmental delay ; gene ; learning disability ; macrocephaly ; mutation ; new mutation ; protein ; sign ; symptom ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Gene Review: FGFR-Related Craniosynostosis Syndromes (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
  • Gene Review: Muenke Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=muenke)
  • Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Childs Nerv Syst. 2004 Feb 10 [Epub ahead of print]. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14963686)
  • Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p6125-6126, 6130-6135.
  • Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10696568)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2006
Published: May 11, 2009