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Genetic and Rare Diseases Information Center (GARD)

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Alström syndrome


Other Names for this Disease

  • ALMS
  • ALSS
  • Alstrom syndrome
  • Alstrom's syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Alström syndrome?

What are the symptoms of Alström syndrome?

What is Alström syndrome?

Alström syndrome is a rare condition that affects many body systems.[1][2] The disorder is generally characterized by vision and hearing abnormalities, childhood obesity, diabetes mellitus, heart disease and slowly progressive kidney dysfunction which can lead to kidney failure.[2] Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive pattern.[1] While there is no specific therapy for this condition, early diagnosis and intervention can moderate the progression and improve the longevity and quality of life for patients with the disease.[3]
Last updated: 12/8/2010

What are the symptoms of Alström syndrome?

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus, and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary greatly in severity, and not all affected individuals have all of the characteristic features of the disorder.[1]

A detailed description of the symptoms associated with Alström syndrome can be found through GeneReviews.

Last updated: 12/8/2010

References
  1. Alström syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/alstrom-syndrome. Accessed 12/8/2010.
  2. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alstrom+Syndrome. Accessed 12/8/2010.
  3. J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64. Accessed 12/8/2010.


Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom syndrome
  • Alstrom's syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.