Alstrom syndrome is an inherited condition affecting fat cells and cilia, exhibiting varying severity of symptoms even within the same family.
Most individuals with this syndrome develop vision and hearing loss, obesity, diabetes, and heart disease. The vision loss is caused by cone-rod dystrophy, leading to light sensitivity and rapid eye movements, with gradual worsening of vision over time. Hearing loss typically affects both ears and progresses slowly. High lipid levels, obesity from childhood, and insulin resistance leading to type 2 diabetes are common features. Many individuals also experience dilated cardiomyopathy and congestive heart failure, often in infancy or childhood. Liver and kidney diseases, chronic respiratory infections, short stature, spinal abnormalities, dental issues, and urinary problems are additional symptoms. Although most people with Alstrom syndrome have normal intelligence, developmental milestones may be delayed. Abnormal sexual development is also common, with males experiencing testosterone deficiency and females facing early puberty, abnormal menstrual cycles, and other reproductive issues, often leading to infertility.
Alstrom syndrome is caused by pathogenic (disease-causing) variants in the ALMS1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition.
Other names for this condition are ALMS and Alstrom-Hallgren syndrome.
Resources:
Alstrom Syndrome International
Revised July 2023
