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) |
| Abnormality of the pupil | 90% |
| Abnormality of the tongue | 90% |
| Aplasia/Hypoplasia of the cerebellum | 90% |
| Arteriovenous malformation | 90% |
| Cognitive impairment | 90% |
| Dental malocclusion | 90% |
| Epibulbar dermoid | 90% |
| Exostoses | 90% |
| Foot polydactyly | 90% |
| Genu recurvatum | 90% |
| Incoordination | 90% |
| Increased intracranial pressure | 90% |
| Irregular hyperpigmentation | 90% |
| Lower limb asymmetry | 90% |
| Macrocephaly | 90% |
| Melanocytic nevus | 90% |
| Migraine | 90% |
| Myopia | 90% |
| Nausea and vomiting | 90% |
| Neoplasm of the nervous system | 90% |
| Seizures | 90% |
| Abnormality of the parathyroid gland | 50% |
| Cataract | 50% |
| Communicating hydrocephalus | 50% |
| Heterochromia iridis | 50% |
| Hyperostosis | 50% |
| Intestinal polyposis | 50% |
| Mandibular prognathia | 50% |
| Multiple lipomas | 50% |
| Retinal detachment | 50% |
| Shagreen patch | 50% |
| Venous insufficiency | 50% |
| Intellectual disability | 12% |
| Intellectual disability, mild | 12% |
| Abnormality of neuronal migration | 7.5% |
| Anteverted nares | 7.5% |
| Bronchogenic cyst | 7.5% |
| Dolichocephaly | 7.5% |
| Polycystic ovaries | 7.5% |
| Skeletal dysplasia | 7.5% |
| Splenomegaly | 7.5% |
| Tall stature | 7.5% |
| Thymus hyperplasia | 7.5% |
| Abnormality of the cardiovascular system | - |
| Adult onset | - |
| Angioid streaks of the retina | - |
| Autosomal dominant inheritance | - |
| Breast carcinoma | - |
| Colonic diverticula | - |
| Fibroadenoma of the breast | - |
| Furrowed tongue | - |
| Goiter | - |
| Gynecomastia | - |
| Hamartomatous polyposis | - |
| Hearing impairment | - |
| High palate | - |
| Hydrocele testis | - |
| Hyperthyroidism | - |
| Hypoplasia of the maxilla | - |
| Hypothyroidism | - |
| Intention tremor | - |
| Kyphosis | - |
| Meningioma | - |
| Narrow mouth | - |
| Ovarian cyst | - |
| Palmoplantar hyperkeratosis | - |
| Pectus excavatum | - |
| Progressive macrocephaly | - |
| Scoliosis | - |
| Skin tags | - |
| Subcutaneous lipoma | - |
| Thyroid adenoma | - |
| Thyroiditis | - |
| Transitional cell carcinoma of the bladder | - |
| Varicocele | - |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
