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) |
| Lymphedema | 90% |
| Microcephaly | 90% |
| Abnormality of nail color | 50% |
| Abnormality of retinal pigmentation | 50% |
| Abnormality of the toenails | 50% |
| Cognitive impairment | 50% |
| Muscular hypotonia | 50% |
| Myopia | 50% |
| Abnormality of the pinna | 7.5% |
| Abnormality of the pleura | 7.5% |
| Aplasia/Hypoplasia affecting the eye | 7.5% |
| Atria septal defect | 7.5% |
| Cataract | 7.5% |
| Cellulitis | 7.5% |
| Dry skin | 7.5% |
| Epicanthus | 7.5% |
| Erysipelas | 7.5% |
| Full cheeks | 7.5% |
| Gangrene | 7.5% |
| Glaucoma | 7.5% |
| Hematological neoplasm | 7.5% |
| Hypertonia | 7.5% |
| Long philtrum | 7.5% |
| Optic atrophy | 7.5% |
| Pointed chin | 7.5% |
| Ptosis | 7.5% |
| Retinal detachment | 7.5% |
| Retinopathy | 7.5% |
| Seizures | 7.5% |
| Short stature | 7.5% |
| Skin ulcer | 7.5% |
| Sloping forehead | 7.5% |
| Thick lower lip vermilion | 7.5% |
| Thickened skin | 7.5% |
| Thrombophlebitis | 7.5% |
| Underdeveloped supraorbital ridges | 7.5% |
| Upslanted palpebral fissure | 7.5% |
| Visual impairment | 7.5% |
| Chorioretinal lacunae | 5% |
| Prominent forehead | 5% |
| Anteverted nares | - |
| Autosomal dominant inheritance | - |
| Broad nasal tip | - |
| Chorioretinal dysplasia | - |
| Deep philtrum | - |
| Depressed nasal bridge | - |
| Flat occiput | - |
| Intellectual disability, mild | - |
| Mandibular prognathia | - |
| Protruding ear | - |
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.
