The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other
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||
|30%-79% of people have these symptoms|
Short and broad skull
Cone-shaped end part of bone
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
Widely spaced eyes[ more ]
|Increased intracranial pressure||
Rise in pressure inside skull
Flat head syndrome
Flattening of skull
Rhomboid shaped skull[ more ]
Eyeballs bulging out
Protruding eyes[ more ]
Drooping upper eyelid
|Sensorineural hearing impairment||0000407|
Small feet[ more ]
Fused ankle bones
|5%-29% of people have these symptoms|
|Global developmental delay||0001263|
Too much cerebrospinal fluid in the brain
|Hypopigmentation of hair||
Loss of hair color
|Hypopigmented skin patches||
Patchy loss of skin color
Increased size of skull
Large head circumference[ more ]
|Percent of people who have these symptoms is not available through HPO|
Short fingers or toes
Broad big toe
Wide big toe[ more ]
Permanent curving of the finger
|Cone-shaped epiphyses of the phalanges of the hand||
Cone-shaped end part of finger bones
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Increased palatal height[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Low anterior hairline||
Low frontal hairline
Low-set frontal hairline[ more ]
Decreased size of midface
Underdevelopment of midface[ more ]
|Radial deviation of finger||0009466|
|Short middle phalanx of finger||
Short middle bone of finger
|Short middle phalanx of toe||
Short middle bones (feet)
Squint eyes[ more ]
|Thimble-shaped middle phalanges of hand||
Thimble-shaped middle bones of hand
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other types of syndromic craniosynostosis such as Crouzon and Saethre-Chotzen syndromes and Pfeiffer syndrome type 1.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.