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 retinal pigmentation||90%|
|Aplasia/Hypoplasia of the abdominal wall musculature||90%|
|Hernia of the abdominal wall||90%|
|Lack of skin elasticity||90%|
|Patent ductus arteriosus||90%|
|Prematurely aged appearance||90%|
|Abnormality of the bronchi||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the palate||50%|
|Aplasia/Hypoplasia of the tongue||50%|
|Depressed nasal ridge||50%|
|Intrauterine growth retardation||50%|
|Low-set, posteriorly rotated ears||50%|
|Recurrent respiratory infections||50%|
|Recurrent urinary tract infections||50%|
|Thickened nuchal skin fold||50%|
|Abnormal blistering of the skin||7.5%|
|Abnormality of metabolism/homeostasis||7.5%|
|Abnormality of the heart valves||7.5%|
|Atria septal defect||7.5%|
|Congestive heart failure||7.5%|
|Decreased body weight||7.5%|
|Ventricular septal defect||7.5%|
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.
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. Suggest an organization to add.
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.