Rothmund-Thomson syndrome

Pronunciation

Definition 1

A rare inherited disorder that affects the skin and many other parts of the body, including the bones, eyes, nose, hair, nails, teeth, testes, and ovaries. People with Rothmund-Thomson syndrome have an increased risk of osteosarcoma (bone cancer). Also called RTS. (NCI Dictionary)

Definition 2

An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma. (NCI Thesaurus)

Definition 3

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism. (NLM, Medical Subject Headings)

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