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 cardiac septa||50%|
|Prominent nasal bridge||50%|
|Abnormality of the palate||7.5%|
|2-3 toe syndactyly||-|
|Abnormality of metabolism/homeostasis||-|
|Atria septal defect||-|
|Autosomal recessive inheritance||-|
|Bilateral choanal atresia/stenosis||-|
|Cleft upper lip||-|
|Conductive hearing impairment||-|
|Feeding difficulties in infancy||-|
|Lower eyelid coloboma||-|
|Preauricular skin tag||-|
|Short palpebral fissure||-|
|Thin vermilion border||-|
|Underdeveloped nasal alae||-|
|Ventricular septal defect||-|
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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.
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