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Diagnostic criteria for Alstrom syndrome [38] |
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| Age (years) |
Major Criteria |
Minor Criteria |
Other supportive evidence |
Diagnosis |
|
|
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| ≤ 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. | ||||
Joy et al. Orphanet Journal of Rare Diseases 2007 2:49 doi:10.1186/1750-1172-2-49 |
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