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||90%|
|Aplasia/Hypoplasia affecting the eye||90%|
|Delayed eruption of teeth||90%|
|Midline defect of the nose||90%|
|Camptodactyly of toe||50%|
|Prominent nasal bridge||50%|
|Reduced number of teeth||50%|
|Abnormality of the mitral valve||7.5%|
|Abnormality of the pulmonary valve||7.5%|
|Aplasia/Hypoplasia of the thumb||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Feeding difficulties in infancy||7.5%|
|Highly arched eyebrow||7.5%|
|Patent ductus arteriosus||7.5%|
|Sensorineural hearing impairment||7.5%|
|Single median maxillary incisor||7.5%|
|Decreased body weight||5%|
|Double outlet right ventricle||5%|
|Hypoplasia of the corpus callosum||5%|
|2-3 toe syndactyly||-|
|Aortic valve stenosis||-|
|Asymmetry of the ears||-|
|Atria septal defect||-|
|Bifid nasal tip||-|
|Broad nasal tip||-|
|Increased number of teeth||-|
|Intellectual disability, mild||-|
|Laterally curved eyebrow||-|
|Mitral valve prolapse||-|
|Persistence of primary teeth||-|
|Posteriorly rotated ears||-|
|Remnants of the hyaloid vascular system||-|
|Submucous cleft hard palate||-|
|Ventricular septal defect||-|
|X-linked dominant inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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