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)|
|External ear malformation||90%|
|Low-set, posteriorly rotated ears||90%|
|Abnormal localization of kidney||50%|
|Atria septal defect||50%|
|Camptodactyly of finger||50%|
|Exaggerated cupid's bow||50%|
|Hypoplasia of penis||50%|
|Limitation of joint mobility||50%|
|Tetralogy of Fallot||50%|
|Ventricular septal defect||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of the tracheobronchial system||-|
|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.