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 involving the nose||90%|
|Atresia of the external auditory canal||90%|
|Aplasia/Hypoplasia of the thumb||50%|
|Vertebral segmentation defect||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of neuronal migration||7.5%|
|Abnormality of the humerus||7.5%|
|Abnormality of the ribs||7.5%|
|Median cleft lip||7.5%|
|Tetralogy of Fallot||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of the pinna||-|
|Abnormality of the vertebrae||-|
|Aplasia of the nose||-|
|Autosomal dominant inheritance||-|
|Hypoplasia of the radius||-|
|Hypoplasia of the ulna||-|
|Median cleft lip and palate||-|
|Unilateral renal dysplasia||-|
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.