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 defective gene (ALMS1) in order for you to have this disease.
It is unknown how the defective gene causes the disorder.
The condition is very rare.
Common symptoms of this condition are:
Occasionally, the following can also occur:
There is no specific treatment for this syndrome. Treatment for symptoms may include:
Tarekegn Geberhiwot practices 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 5 other conditions, according to our data. Their top areas of expertise are Alstrom Syndrome, Fabry Disease, Urea Cycle Disorders (UCD), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), and Tissue Biopsy.
Pietro Maffei practices in Padova, Italy. Maffei is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Alstrom Syndrome, Acromegaly, Acromegaloid Facial Appearance Syndrome, and Hypertrichosis-Acromegaloid Facial Appearance Syndrome.
Gabriella Milan practices in Padova, Italy. Milan is rated as an Elite expert by MediFind in the treatment of Alstrom Syndrome. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Alstrom Syndrome, Obesity, Empty Sella Syndrome, Sleeve Gastrectomy, and Gastrectomy.
Alström Syndrome International -- www.alstrom.org
The following are likely to develop:
Kidney and liver failure may get worse.
Possible complications are:
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 28, 2022
Published By: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, 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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Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. The Retinal Atlas. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.
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.