Meyahealth
HomeGeneticsConditionMuenke syndrome
Back to Condition
Muenke syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Muenke syndrome

Muenke syndrome is a genetic craniosynostosis disorder caused by an FGFR3 mutation, leading to premature skull bone fusion and characteristic facial features.

Overview

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 coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may also be malformed. 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 problems are possible.

The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap with those seen in other craniosynostosis syndromes. A small percentage of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.

Frequency

Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 4 percent of all cases of craniosynostosis.

Causes

A particular mutation in the FGFR3 gene causes Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. The mutation associated with Muenke syndrome 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.

Learn more about the gene associated with Muenke syndrome

  • FGFR3

Inheritance

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.

Other Names for This Condition

  • FGFR3-associated coronal synostosis
  • Muenke nonsyndromic coronal craniosynostosis

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Muenke syndrome

Genetic and Rare Diseases Information Center

  • Muenke syndrome

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

  • MUENKE SYNDROME; MNKES

Scientific Articles on PubMed

  • PubMed

References

  • Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012 Sep;28(9):1447-63. doi: 10.1007/s00381-012-1756-2. Epub 2012 Aug 8.
  • Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078.
  • Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Muenke syndrome: An international multicenter natural history study. Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6.
  • Kruszka P, Rolle M, Kahle KT, Muenke M. Muenke Syndrome. 2006 May 10 [updated 2023 Mar 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1415/
  • Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Childs Nerv Syst. 2004 May;20(5):297-301. doi: 10.1007/s00381-003-0906-y. Epub 2004 Feb 10.
  • 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. doi: 10.1210/edrv.21.1.0387.
  • Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/

Frequently Asked Questions

The diagnosis is confirmed with a cranial CT scan or MRI that shows premature fusion of the coronal suture. Genetic testing for the FGFR3 p.P250R mutation is also required; a positive result confirms Muenke syndrome. Early imaging (within the first few weeks of life) allows timely surgical planning.
The most common procedure is a coronal cranial vault remodeling, which releases the fused suture and reshapes the skull. Outcomes usually include improved head contour and reduced intracranial pressure. Risks include infection, bleeding, and the need for repeat surgery if growth is uneven. Long‑term follow‑up with neurosurgery and plastic surgery teams is standard.
Hearing loss occurs in about 20–30% of cases, often conductive. Routine audiology evaluations at 6 months, 1 year, and annually thereafter are recommended. Developmentally, most children have normal intelligence, but some may have mild learning difficulties or speech delays. Early speech therapy and educational support can mitigate these challenges.
Because Muenke syndrome is autosomal dominant, each child of an affected parent has a 50% chance of inheriting the mutation. Genetic counselors can discuss options such as prenatal testing (amniocentesis or CVS), pre‑implantation genetic diagnosis, and the implications of de‑novo mutations. Counseling also addresses the variable expressivity and potential for mild or asymptomatic carriers.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ