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) |
| Very frequent (present in 80%-99% of cases) |
|
| Cranial nerve paralysis | Very frequent (present in 80%-99% of cases) |
| Enlarged cerebellum | Very frequent (present in 80%-99% of cases) |
| Hand |
Very frequent (present in 80%-99% of cases) |
| Headache | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Increased intracranial pressure | Very frequent (present in 80%-99% of cases) |
| Macrocephaly | Very frequent (present in 80%-99% of cases) |
| Nausea and vomiting | Very frequent (present in 80%-99% of cases) |
| Papule | Very frequent (present in 80%-99% of cases) |
| Polymicrogyria | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Acrokeratosis | Frequent (present in 30%-79% of cases) |
| Fibroadenoma of the breast | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Ovarian neoplasm | Frequent (present in 30%-79% of cases) |
| Trichilemmoma | Frequent (present in 30%-79% of cases) |
| Abnormality of the vasculature | - |
| Adult onset | - |
| Angioid streaks of the retina | - |
| - | |
| Breast carcinoma | - |
| - | |
| Colonic diverticula | - |
| Furrowed tongue | - |
| Goiter | - |
| - | |
| Hamartomatous polyposis | - |
| Hearing impairment | - |
| High palate | - |
| Hydrocele |
- |
| Hyperthyroidism | - |
| Hypoplasia of the maxilla | - |
| Hypothyroidism | - |
| - | |
| Intention tremor | - |
| Kyphosis | - |
| Meningioma | - |
| - | |
| Myopia | - |
| Narrow mouth | - |
| Ovarian cyst | - |
| Palmoplantar hyperkeratosis | - |
| Pectus excavatum | - |
| Progressive macrocephaly | - |
| - | |
| Skin tags | - |
| Subcutaneous lipoma | - |
| Thyroid adenoma | - |
| Thyroiditis | - |
| Transitional |
- |
| Varicocele | - |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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