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)|
|Everted lower lip vermilion||50%|
|Low-set, posteriorly rotated ears||50%|
|Neurological speech impairment||50%|
|Prominent nasal bridge||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of skin pigmentation||7.5%|
|Abnormality of the aorta||7.5%|
|Abnormality of the palate||7.5%|
|Abnormality of the pulmonary artery||7.5%|
|Abnormality of the teeth||7.5%|
|Abnormality of the voice||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Attention deficit hyperactivity disorder||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Patent ductus arteriosus||7.5%|
|Vertebral segmentation defect||7.5%|
|Autosomal dominant inheritance||-|
|Failure to thrive||-|
|Posteriorly rotated ears||-|
|Small for gestational age||-|
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