Rothmund Thomson syndrome


Type of disease: Rare conditions

Rothmund Thomson syndrome is a genetic condition that affects many parts of the body. It is characterized by distinctive abnormalities of the skin; sparse hair, eyelashes and/or eyebrows; small stature; skeletal and dental abnormalities; and an increased risk of developing osteosarcoma, a cancer of the bone. Rothmund Thomson syndrome is inherited in an autosomal recessive pattern. Mutations in the RECQL4 gene cause about two-thirds of all cases. In the other one-third of cases, the cause is unknown. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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