* Sun-sensitive rash with prominent poikiloderma and telangiectasias * Juvenile cataracts * Saddle nose * Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs * Hair growth problems (absent eyelashes, eyebrows and/or hair) * Hypogonadism has not been well documented * Hypodontia * Calcium problems (not documented in journals) * Ear problems (not documented in journals but identified by patients in support groups) * Produces osteosarcoma The skin is normal at birth. Between 3 and 6 months of age, the affected carrier develops poikiloderma on the cheeks. This characteristic "rash" that all RTS carriers have can develop on the arms, legs and buttocks. "Poikiloderma consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin." Accelerated aging In humans, individuals with RTS, and carrying the RECQL4 germline mutation, can have several clinical features of accelerated aging. These features include atrophic skin and pigment changes, alopecia, osteopenia, cataracts and an increased incidence of cancer. Also in mice, RECQL4 mutants show features of accelerated aging.
Rothmund–Thomson syndrome
Weismann-Netter–Stuhl syndrome
Schinzel–Giedion syndrome
Bardet–Biedl syndrome
Smith–Magenis syndrome
Langer–Giedion syndrome
Beckwith–Wiedemann syndrome
Marshall–Smith syndrome