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 blistering of the skin | Very frequent (present in 80%-99% of cases) |
| Cutaneous photosensitivity | Very frequent (present in 80%-99% of cases) |
| Cutis marmorata | Very frequent (present in 80%-99% of cases) |
| Dermal atrophy | Very frequent (present in 80%-99% of cases) |
| Erythema | Very frequent (present in 80%-99% of cases) |
| Hypopigmented skin patches | Very frequent (present in 80%-99% of cases) |
| Irregular hyperpigmentation | Very frequent (present in 80%-99% of cases) |
| Poikiloderma | Very frequent (present in 80%-99% of cases) |
| Abnormality of corneal size | Frequent (present in 30%-79% of cases) |
| Abnormality of the fingernails | Frequent (present in 30%-79% of cases) |
| Carious teeth | Frequent (present in 30%-79% of cases) |
| Deeply set eye | Frequent (present in 30%-79% of cases) |
| Dry skin | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| External ear malformation | Frequent (present in 30%-79% of cases) |
| Frontal bossing | Frequent (present in 30%-79% of cases) |
| Hypertelorism | Frequent (present in 30%-79% of cases) |
| Hypogonadism | Frequent (present in 30%-79% of cases) |
| Joint hyperflexibility | Frequent (present in 30%-79% of cases) |
| Juvenile cataract | Frequent (present in 30%-79% of cases) |
| Limitation of joint mobility | Frequent (present in 30%-79% of cases) |
| Microcephaly | Frequent (present in 30%-79% of cases) |
| Micrognathia | Frequent (present in 30%-79% of cases) |
| Opacification of the corneal stroma | Frequent (present in 30%-79% of cases) |
| Osteosarcoma | Frequent (present in 30%-79% of cases) |
| Palmoplantar hyperkeratosis | Frequent (present in 30%-79% of cases) |
| Scoliosis | Frequent (present in 30%-79% of cases) |
| Short philtrum | Frequent (present in 30%-79% of cases) |
| Sparse and thin eyebrow | Frequent (present in 30%-79% of cases) |
| Sparse eyelashes | Frequent (present in 30%-79% of cases) |
| Abnormal immunoglobulin level | Occasional (present in 5%-29% of cases) |
| Abnormality of the adrenal glands | Occasional (present in 5%-29% of cases) |
| Abnormality of the metacarpal bones | Occasional (present in 5%-29% of cases) |
| Abnormality of the sacrum | Occasional (present in 5%-29% of cases) |
| Abnormality of the ulna | Occasional (present in 5%-29% of cases) |
| Anemia | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the radius | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the thumb | Occasional (present in 5%-29% of cases) |
| Basal cell carcinoma | Occasional (present in 5%-29% of cases) |
| Bronchiectasis | Occasional (present in 5%-29% of cases) |
| Congenital hip dislocation | Occasional (present in 5%-29% of cases) |
| Forearm reduction defects | Occasional (present in 5%-29% of cases) |
| Glaucoma | Occasional (present in 5%-29% of cases) |
| Hypertension | Occasional (present in 5%-29% of cases) |
| Intellectual disability | Occasional (present in 5%-29% of cases) |
| Keratoconus | Occasional (present in 5%-29% of cases) |
| Kyphoscoliosis | Occasional (present in 5%-29% of cases) |
| Lymphoma | Occasional (present in 5%-29% of cases) |
| Malabsorption | Occasional (present in 5%-29% of cases) |
| Myelodysplasia | Occasional (present in 5%-29% of cases) |
| Nausea and vomiting | Occasional (present in 5%-29% of cases) |
| Neoplasm of the stomach | Occasional (present in 5%-29% of cases) |
| Nephropathy | Occasional (present in 5%-29% of cases) |
| Neutropenia | Occasional (present in 5%-29% of cases) |
| Oral cleft | Occasional (present in 5%-29% of cases) |
| Osteopenia | Occasional (present in 5%-29% of cases) |
| Patellar hypoplasia | Occasional (present in 5%-29% of cases) |
| Premature graying of hair | Occasional (present in 5%-29% of cases) |
| Ptosis | Occasional (present in 5%-29% of cases) |
| Pyloric stenosis | Occasional (present in 5%-29% of cases) |
| Reduced number of teeth | Occasional (present in 5%-29% of cases) |
| Sensorineural hearing impairment | Occasional (present in 5%-29% of cases) |
| Skin ulcer | Occasional (present in 5%-29% of cases) |
| Squamous cell carcinoma | Occasional (present in 5%-29% of cases) |
| Abnormality of the nail | - |
| Agenesis of permanent teeth | - |
| Alopecia | - |
| Annular pancreas | - |
| Anteriorly placed anus | - |
| Autosomal recessive inheritance | - |
| Cryptorchidism | - |
| Delayed eruption of teeth | - |
| Increased number of teeth | - |
| Juvenile zonular cataracts | - |
| Microcornea | - |
| Microdontia | - |
| Microphthalmia | - |
| Osteoporosis | - |
| Short foot | - |
| Short nose | - |
| Short palm | - |
| Short thumb | - |
| Small hand | - |
| Sparse hair | - |
| Strabismus | - |
| Talipes equinovarus | - |
| Telangiectasia | - |
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.
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.
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.
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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I'm 13 weeks pregnant and my partner has Rothmund Thomson syndrome. We don't know too much about it. Is there any chance that my child will inherit this? See answer
Is there a role for growth hormone therapy to correct stature? Is there an increased risk of getting malignant disorders? See answer
