geneskin

Rothmund-Thomson Syndrome - Key Clinical Features

[1] Skin - poikiloderma, photosensitivity, increased risk of squamous cell carcinoma
[2] Teeth - hypodontia, malformation
[3] Eyes - juvenile cataracts
[4] Nose - saddle-shape
[5] Hair - sparse
[6] Bones - congenital defects of long bones, osteosarcoma, short stature
[7] GI Tract - Chronic vomiting or diarrhoea. Pyloric stenosis
[8] Hypogonadism
[9] Nails - dystrophic