Alstrom SyndromeSymptoms, Doctors, Treatments, Advances & More
Alstrom Syndrome Overview
Learn About Alstrom Syndrome
Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, deafness, diabetes, and obesity.
Alström-Halgren syndrome; ALMS
Alström syndrome is inherited in an autosomal recessive manner. This means both of your parents must pass on a copy of the variant gene (ALMS1) in order for you to have this disease.
It is unknown how the variant gene causes the disorder.
The condition is very rare.
Common symptoms of this condition are:
- Blindness or severe vision impairment in infancy
- Dark patches of skin (acanthosis nigricans)
- Deafness
- Impaired heart function (cardiomyopathy), which may lead to heart failure
- Obesity
- Progressive kidney failure
- Slowed growth
- Symptoms of childhood-onset or type 2 diabetes
Occasionally, the following can also occur:
- Gastrointestinal reflux
- Hypothyroidism
- Liver dysfunction
- Small penis
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medicines
- Hearing aids
- Heart medicines
- Thyroid hormone replacement
Pietro Maffei practices practicing medicine in Padova, Italy. Mr. Maffei is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Alstrom Syndrome, Acromegaly, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, and Acromegaloid Facial Appearance Syndrome.
Tarekegn Geberhiwot practices practicing medicine in Birmingham, United Kingdom. Geberhiwot is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. They are also highly rated in 9 other conditions, according to our data. Their clinical expertise encompasses Alstrom Syndrome, Fabry Disease, Urea Cycle Disorders (UCD), Homocystinuria, and Pacemaker Implantation.
Gabriella Milan practices practicing medicine in Padova, Italy. Ms. Milan is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Alstrom Syndrome, Obesity, Multiple Symmetric Lipomatosis, Sleeve Gastrectomy, and Gastrectomy.
Alström Syndrome International -- www.alstrom.org
The following are likely to develop:
- Deafness
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.
Possible complications are:
- Complications from diabetes
- Coronary artery disease (from diabetes and high cholesterol)
- Fatigue and shortness of breath (if poor heart function is not treated)
Contact your health care provider if you or your child has symptoms of diabetes. Common symptoms of diabetes are increased thirst and urination. Seek medical attention right away if you think that your child cannot see or hear normally.
Summary: Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity. Setmelanotide, an MC4R agonist, is approved in Europe for selected genetic obesity disorders and reimbursed in Germany for eligible patients. This study aims to evaluate the effectivene...
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: July 03, 2026
Published By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Regional Medical Director of Penn Medicine Primary and Specialty Care, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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O'Rahilly S, Farooqi IS. Genetic syndromes associated with obesity. In: Robertson RP, ed. DeGroot's Endocrinology. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 21.