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)|
|Aplasia/Hypoplasia of the corpus callosum||90%|
|Intrauterine growth retardation||90%|
|Abnormality of the ribs||50%|
|Aplasia/Hypoplasia involving the nose||50%|
|Depressed nasal bridge||50%|
|Low-set, posteriorly rotated ears||50%|
|Abnormality of neuronal migration||7.5%|
|Anomalous pulmonary venous return||7.5%|
|Aplasia/Hypoplasia of the skin||7.5%|
|Increased bone mineral density||7.5%|
|Patent ductus arteriosus||7.5%|
|Abnormality of cholesterol metabolism||2/2|
|Aplasia/Hypoplasia of the corpus callosum||2/2|
|Alveolar ridge overgrowth||1/2|
|Ambiguous genitalia, female||1/2|
|Ambiguous genitalia, male||1/2|
|Bilateral talipes equinovarus||1/2|
|Hypoplastic nasal bridge||1/2|
|Joint contracture of the hand||1/2|
|Patent ductus arteriosus||1/2|
|Posteriorly rotated ears||1/2|
|Total anomalous pulmonary venous return||1/2|
|Autosomal recessive inheritance||-|
|Failure to thrive||-|
|Partial agenesis of the corpus callosum||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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