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 the femur||90%|
|Abnormality of the ribs||90%|
|Abnormal diaphysis morphology||50%|
|Abnormality of epiphysis morphology||50%|
|Abnormality of the elbow||50%|
|Abnormality of the metaphyses||50%|
|Abnormality of the thumb||50%|
|Depressed nasal ridge||50%|
|Abnormality of the skin||7.5%|
|Atria septal defect||7.5%|
|Nausea and vomiting||7.5%|
|Patent ductus arteriosus||7.5%|
|Recurrent respiratory infections||7.5%|
|Thickened nuchal skin fold||7.5%|
|Autosomal recessive inheritance||-|
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.