Orpha Number: 3010
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|
Infrequent bowel movements
|Delayed ossification of carpal bones||0001216|
|Dysharmonic bone age||0200000|
Decreased muscle tone in infant
|30%-79% of people have these symptoms|
Undescended testis[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Tapering fingers[ more ]
|5%-29% of people have these symptoms|
Bloating[ more ]
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
Widely spaced eyes[ more ]
|Hypoplasia of teeth||0000685|
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance[ more ]
|Prominent nasal bridge||
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge[ more ]
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal palmar dermatoglyphics||0001018|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Dysharmonic delayed bone age||0005832|
|Global developmental delay||0001263|
Increased palatal height[ more ]
Low or weak muscle tone
Narrow roof of mouth
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.
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.
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