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.
Also Known As:
Syndrome, Rothmund-Thomson; Congenital Poikiloderma; Poikiloderma Atrophicans and Cataract; Poikiloderma Congenitale of Rothmund-Thomson; Poikiloderma of Rothmund-Thomson; Congenitale, Poikiloderma; Congenitales, Poikiloderma; Poikiloderma Congenitales; Poikiloderma of Rothmund Thomson; Rothmund Thomson Syndrome; Rothmund-Thomson Poikiloderma; Rothmund-Thomson Poikilodermas; Poikiloderma Congenitale