Related MeSH Hierarchy (6)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Skin Abnormalities » Rothmund-Thomson Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Rothmund-Thomson Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Infant, Newborn, Diseases » Rothmund-Thomson Syndrome
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Abnormalities » Rothmund-Thomson Syndrome
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Rothmund-Thomson Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » DNA Repair-Deficiency Disorders » Rothmund-Thomson Syndrome
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. MeSH
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