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)|
|Abnormal nasal morphology||90%|
|Abnormality of the fingernails||90%|
|Aplasia/Hypoplasia of the distal phalanges of the toes||90%|
|Coarse facial features||90%|
|Delayed eruption of teeth||90%|
|Short distal phalanx of finger||90%|
|Abnormality of the philtrum||50%|
|Low posterior hairline||50%|
|Neurological speech impairment||50%|
|Thick lower lip vermilion||50%|
|Abnormal form of the vertebral bodies||7.5%|
|Abnormality of the ribs||7.5%|
|Increased number of teeth||7.5%|
|Patent ductus arteriosus||7.5%|
|Intellectual disability, progressive||5%|
|Intellectual disability, severe||5%|
|Aortic root dilatation||-|
|Autosomal dominant inheritance||-|
|Dilatation of the aortic arch||-|
|Hyperextensibility of the finger joints||-|
|Posteriorly rotated ears||-|
|Short distal phalanx of toe||-|
|Spina bifida occulta||-|
|Wide nasal bridge||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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