Alström Syndrome is a very rare genetic disease that affects children by causing complete blindness, deafness, type 2 diabetes, dilated cardiomyopathy, congestive heart failure, COPD, and kidney and liver failure. Most children are lost in their late teens and early twenties due to these medical complications. Symptoms of Alström Syndrome:
Nystagmus (wobbly eyes) and photophobia (light sensitivity) in early infancy
Progressive vision loss, eventually leading to blindness
Childhood obesity, often moderating in early adulthood
Mild to moderate bilateral sensorineural hearing loss (Frequent glue ear and ear infections in childhood)
Normal intelligence—delayed developmental milestones in some
Normal height in childhood, but early growth cessation results in short adult stature
High levels of insulin in the blood (hyperinsulinemia) and insulin resistance
Type 2 diabetes mellitus, usually developing in early adulthood
Progressive, chronic kidney insufficiency
Congestive heart failure secondary to dilated cardiomyopathy occurring in infancy, adolescence, and/or adulthood
Fatty liver, elevation of liver enzymes, or liver dysfunction
Elevated amounts of protein in the urine
High cholesterol / high triglycerides
Hypothyroidism
Acanthosis nigricans (dark, leathery patches of the skin probably due to insulin resistance)
Small genitalia in males; female hormonal irregularities
Frequent urinary tract infections (UTI) or other urological problems
Frequent pulmonary infections, asthma or chronic obstructive pulmonary disease (COPD)
Learning difficulties, possibly due to vision and hearing loss
Scoliosis or kyphosis (curvature of the spine)
Dental abnormalities (extra or missing teeth, gap between front teeth)
Absence seizures (episodes of ―zoning out)
