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)|
|Abnormal diaphysis morphology||90%|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of the clavicle||90%|
|Spina bifida occulta||90%|
|Abnormality of the helix||50%|
|Atria septal defect||50%|
|Depressed nasal bridge||50%|
|Low-set, posteriorly rotated ears||50%|
|Abnormality of the pinna||-|
|Autosomal recessive inheritance||-|
|Coronal cleft vertebrae||-|
|Dumbbell-shaped long bone||-|
|Hypoplastic vertebral bodies||-|
|Lethal short-limbed short stature||-|
|Patent ductus arteriosus||-|
|Wide anterior fontanel||-|
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.