Mesh term Rothmund-Thomson Syndrome
Browse to parent terms:DNA Repair-Deficiency Disorders
Infant, Newborn, Diseases
Skin Abnormalities
Skin Diseases, Genetic
Description
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.Search for this term in our Faculty Database
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