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 chromosome segregation||90%|
|Abnormality of dental enamel||50%|
|Abnormality of the eyelashes||7.5%|
|Abnormality of the nasal alae||7.5%|
|Aplasia/Hypoplasia of the eyebrow||7.5%|
|Deviated nasal septum||7.5%|
|Hypoplasia of the zygomatic bone||7.5%|
|Midline defect of the nose||7.5%|
|Neurological speech impairment||7.5%|
|Thin vermilion border||7.5%|
|Coarse facial features||17/29|
|Delayed speech and language development||14/29|
|Focal T2 hyperintense basal ganglia lesion||13/29|
|Specific learning disability||13/29|
|Attention deficit hyperactivity disorder||8/24|
|Abnormality of cardiovascular system morphology||8/28|
|Autosomal dominant inheritance||-|
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.