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||
|80%-99% of people have these symptoms|
Narrow opening between the eyelids
Undescended testis[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Prominent eye folds[ more ]
|Everted lower lip vermilion||
Drooping lower lip
Outward turned lower lip[ more ]
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
|Neurological speech impairment||
Speech impediment[ more ]
Drooping upper eyelid
Decreased body height
Small stature[ more ]
|Tented upper lip vermilion||0010804|
|30%-79% of people have these symptoms|
Impaired gait[ more ]
|Hernia of the abdominal wall||0004299|
|5%-29% of people have these symptoms|
Stiff joints[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Abnormality of the dentition||
Dental abnormality[ more ]
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal[ more ]
Excessive, persistent worry and fear
Short and broad skull
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
Swallowing difficulty[ more ]
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone[ more ]
Acid reflux disease
Heartburn[ more ]
|Infantile muscular hypotonia||
Decreased muscle tone in infant
Mental retardation, nonspecific
Mental-retardation[ more ]
Low set ears
Lowset ears[ more ]
Increased size of skull
Large head circumference[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Decreased size of midface
Underdevelopment of midface[ more ]
|Poor eye contact||0000817|
Worsens with time
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
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 Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X) syndrome (see these terms).
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.
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.
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. Submit a new question
I want to know if in this syndrome, people can have microcephaly. See answer
My teenage son has been diagnosed with MECP2 duplication syndrome. What can you tell me about this condition? See answer