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) |
| Chorioretinal lacunae | Occasional (present in 5%-29% of cases) |
| Myopia | Occasional (present in 5%-29% of cases) |
| Optic atrophy | Occasional (present in 5%-29% of cases) |
| Prominent forehead | Occasional (present in 5%-29% of cases) |
| Upslanted palpebral fissure | Occasional (present in 5%-29% of cases) |
| Anteverted nares | - |
| - | |
| Broad nasal tip | - |
| Chorioretinal dysplasia | - |
| Deep philtrum | - |
| Downslanted palpebral fissures | - |
| Epicanthus | - |
| Flat occiput | - |
| - | |
| Long philtrum | - |
| Lymphedema | - |
| - | |
| Protruding ear | - |
| Sloping forehead | - |
| Thick lower lip vermilion | - |
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
