Rothmund-Thomson's syndrome

background

Rothmund-Thomson syndrome (RTS) is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These are genetic disorders that can be inherited in an autosomal dominant or recessive manner.
RTS is characterized by skin problems, sensitivity to the sun, short stature, hair defects, cataracts, a clouding of the lens of the eye, abnormalities of the head and face, tooth problems, digestive issues, and skeletal conditions. Rarely, people with RTS may have intellectual disabilities. People with RTS have an increased risk of developing cancer, specifically bone and skin cancers.
RTS is inherited, or passed down among family members, and is caused by a mutation or defect in the RECQL4 gene. The protein product of the RECQL4 gene is the RECQ protein, which appears to be involved in genome maintenance and may be related to a predisposition to cancer, increased chromosomal defects, and an increased sensitivity to DNA-damaging agents in individuals with this disease. RTS follows a recessive pattern of inheritance, meaning that two copies of the defective gene, one from each parent, are needed for the condition to appear.
RTS is very rare, with only about 300 known cases worldwide. The condition appears to affect males and females equally. Ectodermal dysplasias can occur in any race but are much more dominant in Caucasians than in any other group, particularly in fair-skinned Caucasians.
If an individual with RTS does not develop cancer, he or she can expect to live a long and healthy life.

Related Terms

Anhidrosis, ectodermal dysplasia, lung infections, poikiloderma atrophicans and cataract, poikiloderma congenitale, RECQL4 helicase gene, Rothmund-Thomson syndrome, RTS.