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)|
|Depressed nasal ridge||90%|
|Low-set, posteriorly rotated ears||90%|
|Abnormality of the fontanelles or cranial sutures||50%|
|Abnormality of the nipple||50%|
|Everted lower lip vermilion||50%|
|Intrauterine growth retardation||50%|
|Low posterior hairline||50%|
|Thickened nuchal skin fold||50%|
|Abnormality of the cardiovascular system||7.5%|
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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Is there any research on what happens to these children in adulthood? See answer