Table 1.

Summary of clinical features of segmental progeroid syndromes

Syndrome	Inheritance	Onset	Short stature	Skin/hair	Eyes	Vascular	Malignancy	Neurologic	Other
Werner	AR	Adult	+	Atrophy/graying	Cataract	+	+	-	DM osteoporosis
Bloom	AR	Child	++	Erythema Telangiectasia/graying	-	-	+	-	DM immunodeficiency
Rothmund–Thompson	AR	Child	+	Poikiloderma/graying	Cataract	-	+	-	Radial defect
Laminopathies	AD	Adult	+	Atrophy	-	++	-	-
MDPL	AD	Child	+	Lipodystrophy	-	-	-	-	Deafness, mandible hypoplasia
Ruijs–Aalfs	AR	Child	+	-	Cataract	-	+	-	Kyphoscoliosis
Aicardi–Goutierres	AR AD	Child	+	Chilblains	-	-	-	ID, WM disease, BG calcification	Microcephaly, throbocytopenia
Mosaic trisomy 8	AD	Child	+	Palmar, plantar grooves	Corneal opacity	-	-	ID	Stiff joints
Hutchinson–Gilford	AD	Child	++	Alopecia	-	++	Rare	-	Loss of fat
Ataxia-telangiectasia	AR	Child	+	Telangiectasia	-	-	+	Ataxia	Immunodeficiency
Cockayne syndrome	AR	Child	++	Thin, dry skin and hair	Cataract, Pig. Ret.	-	No	Spasticity, ataxia, ID, CNS calcification	Microcephaly, SNHL, renal insufficiency
Fanconi anemia	AR XL	Child	+	Pigmentation abnormalities	-	-	+	ID	Radial defect, pancytopenia, deafness, heart or kidney birth defect
Myotonic dystrophy	AD	Child or adult	-	Frontal balding	Cataract	-	-	ID	Muscle atrophy and myotonia, diabetes, cardiac conduction abnormality
BSCL	AR	Child	-	Acanthosis nigricans	-	-	-	ID	Generalized lipodystrophy, DM, hypertrophic cardiomyopathy, skeletal muscle hypertrophy

MDPL, Mandibular hypoplasia, deafness, progeroid features, lipodystrophy; BSCL, Berardinelli–Seip congenital lipodystrophy; AR, autosomal recessive; AD, autosomal dominant; XL, X-linked; ID, intellectual disability; BG, basal ganglia; WM, white matter; DM, diabetes mellitus; Pig. Ret., pigmentary retinopathy; SNHL, sensorineural hearing loss; CNS, central nervous system