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|
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||0002516|
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|
|Hypopigmentation of hair||0005599|
|Hypopigmented skin patches||0001053|
Increased size of skull
Large head circumference[ more ]
|Percent of people who have these symptoms is not available through HPO|
Broad big toe
Wide big toe[ more ]
|Cone-shaped epiphyses of the phalanges of the hand||
Cone-shaped end part of finger bones
|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)
|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.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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