Alstrom syndrome diagnostic criteria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.

Diagnostic Criteria

Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.

Age Range	Major Criteria	Minor Criteria	Criteria Required	Other Supportive Features
Birth - 2 years	• ALMS1 mutation in 1 allele and/or family history of Alström Syndrome • Vision pathology (nystagmus, photophobia)	• Obesity • Dilated cardiomyopathy with congestive heart failure	Minimum diagnosis requires 2 major criteria OR 1 major and 2 minor criteria	Recurrent pulmonary infections, normal digits, delayed developmental milestones
3-14 years	• ALMS1 mutation in 1 allele and/or family history of Alström Syndrome • Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG)	• Obesity and/or insulin resistance and/or Type 2 Diabetes • History of dilated cardiomyopathy with congestive heart failure • Hearing loss • Hepatic dysfunction • Renal failure • Advanced bone age	Minimum diagnosis requires 2 major criteria OR 1 major and 3 minor criteria	Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency
15 years - adulthood	• ALMS1 mutation in 1 allele and/or family history of Alström Syndrome • Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG)	• Obesity and/or insulin resistance and/or Type 2 Diabetes • History of dilated cardiomyopathy with congestive heart failure • Hearing loss • Hepatic dysfunction • Renal failure • Short stature • Males: hypogonadism, Females: irregular menses and/or hyperandrogenism	Minimum diagnosis requires 2 major and 2 minor criteria OR 1 major and 4 minor criteria	Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia

References

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