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 calvarial morphology||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of thumb phalanx||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Camptodactyly of finger||90%|
|Cerebral cortical atrophy||90%|
|Hypopigmented skin patches||90%|
|Non-midline cleft lip||90%|
|Short distal phalanx of finger||90%|
|Everted lower lip vermilion||50%|
|Abnormality of the urinary system||7.5%|
|Mixed hearing impairment||5%|
|S-shaped palpebral fissures||5%|
|Cleft upper lip||-|
|Wide nasal bridge||-|
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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