Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Alstrom syndrome diagnostic criteria
Introduction
Overview
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
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 | 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 • 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 |
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]