Rothmund-Thomson Syndrome

**Definition:** 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.

**Tree numbers:** - C16.131.831.775 - C16.320.850.765 - C16.614.760 - C17.800.804.775 - C17.800.827.775 - C18.452.284.760

**Synonyms:** - Poikiloderma Congenitale - Poikiloderma of Rothmund-Thomson - Poikiloderma Atrophicans and Cataract - Congenital Poikiloderma - Poikiloderma Congenitale of Rothmund-Thomson