Table 3.

Diagnostic criteria for Alstrom syndrome [38]

Age (years)	Major Criteria	Minor Criteria	Other supportive evidence	Diagnosis
≤ 2*	• ALMS 1 mutation in 1 allele and/or family history of AS • Vision (nystagmus, photophobia)	• Obesity • DCM/CHF	• Recurrent pulmonary infections • Normal digits • Delayed developmental milestones	2 major criteria OR 1 major + 2 minor criteria
3–14	• ALMS 1 mutation in 1 allele and/or family history of AS • Vision (nystagmus, photophobia, decreased acuity, cone dystrophy by ERG**)	• Obesity and/or insulin resistance • (History of) DCM/CHF • Hearing loss • Advanced bone age • Hepatic dysfunction • Renal failure	• Recurrent pulmonary infections • Normal digits • Delayed developmental milestones • Hyperlipidemia • Scoliosis • Flat wide feet • Hypothyroidism • Hypertension • GH deficiency • Recurrent UTI	2 major criteria OR 1 major + 3 minor criteria
≥ 15	• ALMS 1 mutation in 1 allele and/or family history of AS • Vision (legal blindness, history of nystagmus in infancy/childhood, cone and rod dystrophy by ERG)	• Obesity and/or insulin resistance and/or DM2 • (History of) DCM/CHF • Hearing loss • Hepatic dysfunction • Renal failure • Short stature • Males – hypogonadism • Females – irregular menses and/or hyperandrogenism	• Recurrent pulmonary infections • Normal digits • History of developmental delay • Hyperlipidemia • Scoliosis • Flat wide feet • Hypothyroidism • Hypertension • GH deficiency • Alopecia • Recurrent UTI or urinary dysfunction	2 major + 2 minor criteria OR 1 major + 4 minor criteria

*These diagnostic criteria should be re-evaluated when the patient becomes older

** ERG to be conducted only if the child is old enough for testing

Abbreviations: AS, Alstrom syndrome; DCM/CHF, dilated cardiomyopathy/congestive heart failure; ERG, electroretinogram; GH, growth hormone; UTI, urinary tract infections; DM2, type 2 diabetes.