The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of adipose tissue||90%|
|Abnormality of the voice||90%|
|Prematurely aged appearance||90%|
|Deeply set eye||50%|
|Inflammatory abnormality of the eye||50%|
|Limitation of joint mobility||50%|
|Recurrent respiratory infections||50%|
|Reduced number of teeth||50%|
|Abnormality of lipid metabolism||7.5%|
|Abnormality of the aortic valve||7.5%|
|Abnormality of the gastric mucosa||7.5%|
|Intrauterine growth retardation||7.5%|
|Nausea and vomiting||7.5%|
|Abnormal joint morphology||-|
|Aortic valve stenosis||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Bicuspid aortic valve||-|
|High pitched voice||-|
|High-frequency hearing impairment||-|
|Impaired T cell function||-|
|Lack of facial subcutaneous fat||-|
|Sensorineural hearing impairment||-|
|Severe viral infections||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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