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Disease Profile

Muenke Syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Muenke nonsyndromic coronal craniosynostosis; Syndrome of coronal craniosynostosis

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Brachycephaly
Short and broad skull
0000248
Carpal synostosis
0009702
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Coronal craniosynostosis
0004440
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

 0002705
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

 0000316
Increased intracranial pressure
Rise in pressure inside skull
0002516
Malar flattening
Zygomatic flattening
0000272
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

 0001357
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

 0000520
Ptosis
Drooping upper eyelid
0000508
Sensorineural hearing impairment
0000407
Short foot
Short feet
Small feet

[ more ]

 0001773
Short palm
0004279
Tarsal synostosis
Fused ankle bones
0008368
5%-29% of people have these symptoms
Global developmental delay
0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypermelanotic macule
Hyperpigmented spots
0001034
Hypopigmentation of hair
Loss of hair color
0005599
Hypopigmented skin patches
Patchy loss of skin color
0001053
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

 0000256
1%-4% of people have these symptoms
Amblyopia
Lazy eye
Wandering eye

[ more ]

 0000646
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

 0007018
Brachydactyly
Short fingers or toes
0001156
Broad hallux
Broad big toe
Wide big toe

[ more ]

 0010055
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

 0011304
Clinodactyly
Permanent curving of the finger
0030084
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Hearing impairment
Deafness
Hearing defect

[ more ]

 0000365
High palate
Elevated palate
Increased palatal height

[ more ]

 0000218
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

 0001249
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

 0011800
Recurrent otitis media
Recurrent middle ear infection
0000403
Seizure
0001250
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

 0000486
Thimble-shaped middle phalanges of hand
Thimble-shaped middle bones of hand
0006193
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Capitate-hamate fusion
0001241
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

 0000689
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Low anterior hairline
Low frontal hairline
Low-set frontal hairline

[ more ]

 0000294
Radial deviation of finger
0009466
Short middle phalanx of finger
Short middle bone of finger
0005819
Short middle phalanx of toe
Short middle bones (feet)
0003795
Temporal bossing
0032569
Do you have updated information on this disease? We want to hear from you.

Cause

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]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    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]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Muenke Syndrome. Click on the link to view a sample search on this topic.

          References

          1. Muenke syndrome. Genetics Home Reference (GHR). June 2006; https://ghr.nlm.nih.gov/condition/muenke-syndrome. Accessed 10/3/2011.
          2. Muenke syndrome. Orphanet. January 2006; https://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; https://www.ncbi.nlm.nih.gov/books/NBK1415/. Accessed 10/3/2011.

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