Table 1.

Clinical features of RecQ disorders

Syndrome (gene)	Main Clinical Features	Cancer Predisposition
Blooms syndrome (BLM)	Dwarfism, beaked nose, narrow face, pigmentation, redness, and dilated blood vessels in skin, mental retardation, type-II diabetes, immunodeficiency, lung problems, low or no fertility	Early onset with normal distribution of tissue and type
Werner syndrome (WRN)	Bilateral cataracts, hoarseness, skin alterations, thin limbs, premature gray/loss of hair, pinched facial features, short stature, osteoporosis, hypogonadism, diabetes, soft tissue calcification	Early onset of primary sarcomas and mesenchymal tumors
Rothmund-Thomson syndrome (RECQ4)	Poikiloderma, juvenile cataracts, growth retardation, skeletal dysplasia, sparse scalp hair, hypogonadism	Early onset of osteosarcomas
RAPADILINO syndrome (RECQ4)	Growth retardation, bone malformation such as limbs, radial defects such as hypoplasia and aplasia of thumbs and radius, cleft or highly arched palate	Lymphoma and osteosarcoma
Baller-Gerold syndrome (RECQ4)	Craniosynostosis, radial aplasia and hypoplasia, poikiloderma, growth retardation	N.A.