What is Alström syndrome
Alström syndrome is a very rare genetic condition. It can affect vision, hearing, heart function, metabolism, and other body systems over time.
Very rare
It is considered ultra-rare. Published sources describe low prevalence, and some communities remain underdiagnosed.
Genetic cause
It is caused by changes in the ALMS1 gene. It is inherited in an autosomal recessive pattern.
Different in each person
Not everyone has the same symptoms or timing. Even siblings can have different severity.
What usually appears first
- Vision signs in infancy such as light sensitivity and nystagmus
- Hearing changes that often progress over time
- Metabolic concerns such as insulin resistance and later type 2 diabetes
- Heart involvement, including cardiomyopathy in some children
What this means for families
The condition is complex, but a clear care plan helps. Families often do best when they use coordinated specialist care and regular monitoring.
Sources
- https://medlineplus.gov/genetics/condition/alstrom-syndrome/
- https://pmc.ncbi.nlm.nih.gov/articles/PMC3137007/
- https://omim.org/entry/203800
- https://www.alstrom.org.uk/what-is/
Last reviewed: 2026-03-26
This site is for informational purposes only and not medical advice.