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 palate||90%|
|Abnormality of the voice||90%|
|Disproportionate tall stature||90%|
|Neurological speech impairment||90%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Atria septal defect||50%|
|Attention deficit hyperactivity disorder||50%|
|Hypoplasia of the zygomatic bone||50%|
|Prominent nasal bridge||50%|
|Abnormality of calvarial morphology||7.5%|
|Abnormality of the pinna||7.5%|
|Abnormality of the teeth||7.5%|
|Camptodactyly of finger||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Abnormality of the genitourinary system||-|
|Abnormality of the rib cage||-|
|Abnormally folded helix||-|
|Agenesis of corpus callosum||-|
|Ascending aortic aneurysm||-|
|Hypoplasia of the maxilla||-|
|Impaired social interactions||-|
|Low frustration tolerance||-|
|Narrow nasal bridge||-|
|Ventricular septal defect||-|
|X-linked recessive inheritance||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.