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)|
|Aplasia/Hypoplasia involving the nose||90%|
|Depressed nasal bridge||90%|
|Depressed nasal ridge||90%|
|Non-midline cleft lip||90%|
|Abnormality of calvarial morphology||50%|
|Abnormality of the eyelashes||50%|
|Abnormality of the sense of smell||50%|
|Aplasia/Hypoplasia of the eyebrow||50%|
|Midline defect of the nose||50%|
|Preauricular skin tag||50%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Sacrococcygeal pilonidal abnormality||7.5%|
|Absent inner eyelashes||-|
|Autosomal recessive inheritance||-|
|Cranium bifidum occultum||-|
|Frontal cutaneous lipoma||-|
|Hypoplasia of the frontal bone||-|
|S-shaped palpebral fissures||-|
|Underdeveloped nasal alae||-|
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.