Orpha Number: 3339
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) |
| Arachnoid cyst | Occasional (present in 5%-29% of cases) |
| Astigmatism | Occasional (present in 5%-29% of cases) |
| Opacification of the corneal stroma | Occasional (present in 5%-29% of cases) |
| Parietal bossing | Occasional (present in 5%-29% of cases) |
| Wide nasal bridge | Occasional (present in 5%-29% of cases) |
| Anisometropia | - |
| Aplasia cutis congenita | - |
| - | |
| Bladder exstrophy | - |
| Cleft eyelid | - |
| Coarctation of aorta | - |
| Epibulbar dermoid | - |
| Epicanthus | - |
| Epidermal nevus | - |
| Growth delay | - |
| Hyperactivity | - |
| Hyperpigmentation of the skin | - |
| Lower limb asymmetry | - |
| Lymphedema | - |
| Macrocephaly | - |
| Phenotypic variability | - |
| Proptosis | - |
| - | |
| - | |
| Transient ischemic attack | - |
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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