BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAlstrom syndromeAlström syndromeAlström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, deafness, diabetes, and obesity.BlindnessBlindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...Read Article Now Book Mark Article DeafnessHearing loss is being partly or totally unable to hear sound in one or both ears.Read Article Now Book Mark Article DiabetesDiabetes is a long-term (chronic) disease in which the body cannot regulate the amount of sugar in the blood.Read Article Now Book Mark Article ObesityOverweight and obesity mean having a weight than is higher than what is healthy for a given height. A person may be overweight from extra muscle, bo...Read Article Now Book Mark Article Causes 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. Autosomal recessiveAutosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...Read Article Now Book Mark Article It is unknown how the defective gene causes the disorder.The condition is very rare. Symptoms Common symptoms of this condition are:Blindness or severe vision impairment in infancy Vision impairmentThere are many types of eye problems and vision disturbances, such as: Halos Blurred vision (the loss of sharpness of vision and the inability to see...Read Article Now Book Mark Article Dark patches of skin (acanthosis nigricans) Deafness Impaired heart function (cardiomyopathy), which may lead to heart failure CardiomyopathyCardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It often contributes to the hear...Read Article Now Book Mark Article Obesity Progressive kidney failure Slowed growth Symptoms of childhood-onset or type 2 diabetes Occasionally, the following can also occur:Gastrointestinal reflux Hypothyroidism HypothyroidismHypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This condition is often called underactive thyroid....Read Article Now Book Mark Article Liver dysfunction Small penis Exams and Tests An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.Tests may be done to check:Blood sugar levels (to diagnose high blood sugar or hyperglycemia) HyperglycemiaA blood sugar test measures the amount of a sugar called glucose in a sample of your blood. Glucose is a major source of energy for most cells of the...Read Article Now Book Mark Article Hearing Heart function Thyroid function Triglyceride levels TriglycerideThe triglyceride level is a blood test to measure the amount of triglycerides in your blood. Triglycerides are a type of fat. Your body makes some t...Read Article Now Book Mark Article Treatment There is no specific treatment for this syndrome. Treatment for symptoms may include:Diabetes medicine Hearing aids Heart medicine Thyroid hormone replacement Support Groups Alström Syndrome International -- www.alstrom.org Outlook (Prognosis) The following are likely to develop:Deafness Permanent blindness Type 2 diabetes Kidney and liver failure may get worse. Possible Complications 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) When to Contact a Medical Professional 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.Open ReferencesReferencesFarooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.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.AllVideoImagesTogRelated Information Blindness and vision loss(Symptoms)Hearing loss(Symptoms)Diabetes(Condition)Overweight(Symptoms)Autosomal recessive(Special Topic)Diabetes - type 1 - InDepth(In-Depth)Weight control and diet - InDepth(In-Depth) Review Date: 7/28/2022 Reviewed 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. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. 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Alstrom syndromeAlström syndromeAlström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, deafness, diabetes, and obesity.BlindnessBlindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...Read Article Now Book Mark Article DeafnessHearing loss is being partly or totally unable to hear sound in one or both ears.Read Article Now Book Mark Article DiabetesDiabetes is a long-term (chronic) disease in which the body cannot regulate the amount of sugar in the blood.Read Article Now Book Mark Article ObesityOverweight and obesity mean having a weight than is higher than what is healthy for a given height. A person may be overweight from extra muscle, bo...Read Article Now Book Mark Article Causes 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. Autosomal recessiveAutosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...Read Article Now Book Mark Article It is unknown how the defective gene causes the disorder.The condition is very rare. Symptoms Common symptoms of this condition are:Blindness or severe vision impairment in infancy Vision impairmentThere are many types of eye problems and vision disturbances, such as: Halos Blurred vision (the loss of sharpness of vision and the inability to see...Read Article Now Book Mark Article Dark patches of skin (acanthosis nigricans) Deafness Impaired heart function (cardiomyopathy), which may lead to heart failure CardiomyopathyCardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It often contributes to the hear...Read Article Now Book Mark Article Obesity Progressive kidney failure Slowed growth Symptoms of childhood-onset or type 2 diabetes Occasionally, the following can also occur:Gastrointestinal reflux Hypothyroidism HypothyroidismHypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This condition is often called underactive thyroid....Read Article Now Book Mark Article Liver dysfunction Small penis Exams and Tests An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.Tests may be done to check:Blood sugar levels (to diagnose high blood sugar or hyperglycemia) HyperglycemiaA blood sugar test measures the amount of a sugar called glucose in a sample of your blood. Glucose is a major source of energy for most cells of the...Read Article Now Book Mark Article Hearing Heart function Thyroid function Triglyceride levels TriglycerideThe triglyceride level is a blood test to measure the amount of triglycerides in your blood. Triglycerides are a type of fat. Your body makes some t...Read Article Now Book Mark Article Treatment There is no specific treatment for this syndrome. Treatment for symptoms may include:Diabetes medicine Hearing aids Heart medicine Thyroid hormone replacement Support Groups Alström Syndrome International -- www.alstrom.org Outlook (Prognosis) The following are likely to develop:Deafness Permanent blindness Type 2 diabetes Kidney and liver failure may get worse. Possible Complications 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) When to Contact a Medical Professional 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.Open ReferencesReferencesFarooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.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.