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 syndrome
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 medicine
- Hearing aids
- Heart medicine
- Thyroid hormone replacement
Pietro Maffei practices in Padova, Italy. Mr. Maffei is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. His top areas of expertise are Alstrom Syndrome, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, Acromegaloid Facial Appearance Syndrome, and Acromegaly.
Tarekegn Geberhiwot practices in Birmingham, United Kingdom. Geberhiwot is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. Their top areas of expertise are Alstrom Syndrome, Fabry Disease, Urea Cycle Disorders (UCD), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), and Pacemaker Implantation.
Gabriella Milan practices in Padova, Italy. Ms. Milan is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. Her top areas of expertise are Alstrom Syndrome, Obesity, Restrictive Cardiomyopathy (RCM), 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: 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...
Summary: ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on qua...
Published Date: July 16, 2024
Published By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Dollfus H. Genetic syndromes associated with obesity. In: Loyns CJ, Lambert SR, eds. Taylor and Hoyt's Pediatric Ophthalmology and Strabismus. 6th ed. Philadelphia, PA: Elsevier; 2023:chap 46.
Haddad J. Hearing loss. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 677.
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.
Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.