Table 3 Diagnostic criteria for Alstrom syndrome [38]
From: Alstrom syndrome (OMIM 203800): a case report and literature review
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 |