Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies.
What genes are related to Rothmund-Thomson syndrome?
Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making a protein whose function is not well understood, although researchers believe that it helps stabilize genetic information in the body's cells. This protein probably also plays a role in copying (replicating) and repairing DNA.
RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome.
In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been found. The cause of the condition in these individuals is unknown; however, researchers suspect that these cases may result from mutations in a gene related to RECQL4.
In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes are related to the overall instability of an affected person's genetic information.
The word "rash" means an outbreak of red bumps on the body. The way people use this term, "a rash" can refer to many different skin conditions. The most common of these are scaly patches of skin and red, itchy bumps or patches all over the place.
Diarrhea is a change is the frequency and looseness of bowel movements. Cramping, abdominal pain, and the sensation of rectal urgency are all symptoms of diarrhea. Absorbents and anti-motility medications are used to treat diarrhea.
In the U.S., more than 2,000 people are diagnosed with bone cancer every year. There are many types of bone cancer. The most common forms of bone cancer are osteosarcoma, Ewing's sarcoma, chondrosarcoma, malignant fibrous histiocytoma, fibrosarcoma, and chordoma. Pain is the most common symptom. Treatment usually involves surgery, chemotherapy, and radiation therapy.
Skin cancer is the most common form of cancer
in humans. There are three main types of skin cancer; basal cell carcinoma and
squamous cell carcinoma (the nonmelanoma skin cancers), and melanoma.
Nausea is an uneasiness of the stomach that often precedes vomiting. Nausea and vomiting are not diseases, but they are symptoms of many conditions. The causes of vomiting differ according to age, and treatment depends upon the cause of nausea and vomiting.
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Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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