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Diseases

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
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Symptoms

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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][2] 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

The Human Phenotype Ontology provides the following list of signs and symptoms for Muenke Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the palate 50%
Brachydactyly syndrome 50%
Cone-shaped epiphysis 50%
Hypertelorism 50%
Increased intracranial pressure 50%
Malar flattening 50%
Plagiocephaly 50%
Proptosis 50%
Ptosis 50%
Short toe 50%
Synostosis of carpal bones 50%
Tarsal synostosis 50%
Cognitive impairment 7.5%
Hydrocephalus 7.5%
Macrocephaly 7.5%
Autosomal dominant inheritance -
Brachycephaly -
Broad hallux -
Capitate-hamate fusion -
Clinodactyly -
Cone-shaped epiphyses of the phalanges of the hand -
Coronal craniosynostosis -
Downslanted palpebral fissures -
High palate -
Hypertelorism -
Intellectual disability -
Low anterior hairline -
Macrocephaly -
Malar flattening -
Midface retrusion -
Plagiocephaly -
Ptosis -
Radial deviation of finger -
Short middle phalanx of finger -
Short middle phalanx of toe -
Thimble-shaped middle phalanges of hand -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Muenke syndrome. Genetics Home Reference (GHR). June 2006; http://ghr.nlm.nih.gov/condition/muenke-syndrome. Accessed 10/3/2011.
  2. 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.