ROTHMUND-THOMSON SYNDROME FOUNDATION
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Mission Statement
Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that can affect people of all races and nationalities. Symptoms often appear during infancy, usually between 3 and 6 months of age, in the form of skin rash on the cheeks. RTS is characterized by the following clinical features: Poikiloderma (unique skin rash), sparse or absent hair, small stature, bone deformalities, dental and nail abnormalities, juvenile cataracts, and skin cancer and bone cancer (osteosarcoma) Diagnosis is primarily made through evaluations of clinical features. A genetic test for mutation of the RECQL4 gene can confirm the disorder, but is not present in all cases. Roughly 2/3 of RTS patients have this mutation which is associated with increased risk of osteosarcoma.
About This Cause
The mission of the RTS Foundation is to foster worldwide awareness and education about Rothmund-Thomson Syndrome and related disorders and to encourage research through support of scientists and physicians studying the clinical spectrum, molecular and cellular basis of RECL4 and related syndromes. The foundation sponsors clinical research at Baylor College of Medicine, which includes: Developing the RTS patient registry and defining clinical diagnostic criteria for RTS. Characterization of the RECQL4 gene mutation and identification of other gene mutations associated with RTS. Detailed studies of osteosarcoma in RTS patients and providing treatment recommendations for oncologists treating RTS patients. Study of bone and skeletal defects affecting the RTS population. In addition, the foundation provides funding for families whose medical plans will not cover genetic testing. These tests cost between $1500 - $2500 depending on where they are performed. The Foundation sponsors an annual Sharing and Caring Conference for RTS patients and families. We bring to together families and physicians to provide education and support.