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. 2007 Dec 21;2:49. doi: 10.1186/1750-1172-2-49

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.