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) |
| Abnormal hair whorl | Very frequent (present in 80%-99% of cases) |
| Abnormality of the thorax | Very frequent (present in 80%-99% of cases) |
| Abnormality of the voice | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Convex nasal ridge | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Lipoatrophy | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Pili torti | Very frequent (present in 80%-99% of cases) |
| Premature graying of hair | Very frequent (present in 80%-99% of cases) |
| Slender build | Very frequent (present in 80%-99% of cases) |
| Sparse scalp hair | Very frequent (present in 80%-99% of cases) |
| White forelock | Very frequent (present in 80%-99% of cases) |
| Abnormality of retinal pigmentation | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the skin | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the |
Frequent (present in 30%-79% of cases) |
| Chondrocalcinosis | Frequent (present in 30%-79% of cases) |
| Congestive heart failure | Frequent (present in 30%-79% of cases) |
| Decreased fertility | Frequent (present in 30%-79% of cases) |
| Hyperkeratosis | Frequent (present in 30%-79% of cases) |
| Increased bone mineral density | Frequent (present in 30%-79% of cases) |
| Insulin resistance | Frequent (present in 30%-79% of cases) |
| Lack of skin elasticity | Frequent (present in 30%-79% of cases) |
| Myocardial infarction | Frequent (present in 30%-79% of cases) |
| Narrow face | Frequent (present in 30%-79% of cases) |
| Pulmonary artery stenosis | Frequent (present in 30%-79% of cases) |
| Rocker bottom foot | Frequent (present in 30%-79% of cases) |
| Skeletal muscle atrophy | Frequent (present in 30%-79% of cases) |
| Skin ulcer | Frequent (present in 30%-79% of cases) |
| Small hand | Frequent (present in 30%-79% of cases) |
| Subcutaneous calcification | Frequent (present in 30%-79% of cases) |
| Telangiectasia of the skin | Frequent (present in 30%-79% of cases) |
| Type II |
Frequent (present in 30%-79% of cases) |
| Abnormality of the cerebral vasculature | Occasional (present in 5%-29% of cases) |
| Acral lentiginous |
Occasional (present in 5%-29% of cases) |
| Breast carcinoma | Occasional (present in 5%-29% of cases) |
| Gastrointestinal carcinoma | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Joint stiffness | Occasional (present in 5%-29% of cases) |
| Laryngomalacia | Occasional (present in 5%-29% of cases) |
| Meningioma | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Neoplasm of the oral cavity | Occasional (present in 5%-29% of cases) |
| Neoplasm of the small intestine | Occasional (present in 5%-29% of cases) |
| Ovarian neoplasm | Occasional (present in 5%-29% of cases) |
| Renal neoplasm | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Secondary amenorrhea | Occasional (present in 5%-29% of cases) |
| Spontaneous abortion | Occasional (present in 5%-29% of cases) |
| Squamous |
Occasional (present in 5%-29% of cases) |
| Thyroid carcinoma | Occasional (present in 5%-29% of cases) |
| Abnormality of the hair | - |
| - | |
| Diabetes mellitus | - |
| Osteosarcoma | - |
| Premature arteriosclerosis | - |
| Progeroid facial appearance | - |
| Retinal degeneration | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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August 31, 2017
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August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
American Society for Microbiology (ASM) Conference on DNA Repair and Mutagenesis Saturday, May 30, 2009 -
Friday, June 5, 2009
Location: Fairmont Chateau Whistler,
British Columbia,
Canada
Description: The major goals of this conference were to disseminate novel, unpublished results; identify new technologies and clinical therapies; and foster new collaborations among participants. A hallmark of this conference is the exceptionally broad cross-section of participants in terms of research focus (basic, translational, and clinical), age (the large meeting venue draws many younger scientists, graduate students, and senior investigators; ASM committed $20,000 to subsidize graduate student travel), institutional affiliation (academia, government, private industry, and publishing), and geography. Numerous opportunities were provided for in-depth discussion during and after sessions and at meals, including the popular evening poster sessions to promote informal interactions among all participants.
Contact: Dr. Peggy Hsieh, NIDDK 301-496-0306
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases
- 266KB)
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