National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Alström syndrome

Alström syndrome is a rare genetic disorder that affects many body systems.[1][2] Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop.[2] Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner.[1] While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.[2][3]
Last updated: 6/22/2016
The signs and symptoms of Alström syndrome vary among affected individuals. The age that symptoms begin also varies. Symptoms may first appear anywhere from infancy to early adulthood.[2]

Signs and symptoms may include:[1][3][2]
  • Vision abnormalities, specifically cone-rod dystrophy and cataracts 
  • Progressive sensorineural hearing loss in both ears and chronic infection or inflammation of the middle ear
  • Heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy)
  • Excessive eating (hyperphagia) and rapid weight gain leading to obesity 
  • Insulin resistance leading to high levels of insulin in the blood (hyperinsulinemia) and type 2 diabetes mellitus
  • Elevated levels of fats (lipids) in the blood (hyperlipidemia) 
  • Fatty liver that may progress to significant liver disease
  • Short stature
  • Skin findings including abnormally increased coloration and “velvety” thickening of the skin in certain areas of the body (acanthosis nigricans)
  • Lower hormone levels produced by the male testes or the female ovaries (hypogonadism)

Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.[2]

Last updated: 6/22/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 84 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal chorioretinal morphology 0000532
Cone/cone-rod dystrophy 0000548
Progressive sensorineural hearing impairment 0000408
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Truncal obesity 0001956
30%-79% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Asthma 0002099
Blindness 0000618
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chronic otitis media
Chronic infections of the middle ear
0000389
Death in early adulthood 0100613
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Hyperinsulinemia 0000842
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Insulin resistance
Body fails to respond to insulin
0000855
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] 		0000529
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Respiratory insufficiency
Respiratory impairment
0002093
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] 		0005978
5%-29% of people have these symptoms
Abnormal adipose tissue morphology
Abnormality of adipose tissue
Abnormality of fat tissue
Abnormality of fatty tissue
[ more ] 		0009124
Abnormality of female external genitalia
Abnormal female external genitalia
0000055
Abnormality of the urethra
Urethra issue
0000795
Alopecia
Hair loss
0001596
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Autism 0000717
Chronic hepatic failure
Chronic liver failure
0100626
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Decreased testicular size
Small testes
Small testis
[ more ] 		0008734
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Depressivity
Depression
0000716
Generalized hirsutism
Excessive hairiness over body
0002230
Global developmental delay 0001263
Glomerulopathy 0100820
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hepatomegaly
Enlarged liver
0002240
Hypothyroidism
Underactive thyroid
0000821
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Male hypogonadism
Decreased function of male gonad
0000026
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722
Polycystic ovaries 0000147
Portal hypertension 0001409
Precocious puberty
Early onset of puberty
Early puberty
[ more ] 		0000826
Pulmonary fibrosis 0002206
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Renovascular hypertension 0100817
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Seizure 0001250
Splenomegaly
Increased spleen size
0001744
Tubulointerstitial nephritis 0001970
Vesicoureteral reflux 0000076
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Abnormality of the hand
Abnormal hands
Hand anomalies
Hand deformities
[ more ] 		0001155
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ] 		0005616
Atherosclerosis
Narrowing and hardening of arteries
0002621
Autosomal recessive inheritance 0000007
Chronic active hepatitis 0200120
Constriction of peripheral visual field
Limited peripheral vision
0001133
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ] 		0003233
Diabetes insipidus 0000873
Elevated hepatic transaminase
High liver enzymes
0002910
Gingivitis
Inflamed gums
Red and swollen gums
[ more ] 		0000230
Growth hormone deficiency 0000824
Gynecomastia
Enlarged male breast
0000771
Hypergonadotropic hypogonadism 0000815
Hyperostosis frontalis interna 0004438
Hypertension 0000822
Hyperuricemia
High blood uric acid level
0002149
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] 		0000831
Irregular menstruation
Menstrual irregularity
0000858
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Multinodular goiter 0005987
Nephritis
Kidney inflammation
0000123
Otitis media
Middle ear infection
0000388
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Pigmentary retinopathy 0000580
Recurrent pneumonia 0006532
Scoliosis 0002650
Subcapsular cataract 0000523
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
Showing of 84 |
Last updated: 7/1/2020
Alström syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the ALMS1 gene in each cell.[1] 

Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier
Last updated: 6/14/2016
Genetic testing of the ALMS1 gene is available for Alström syndrome. Although genetic testing is not necessary to make a diagnosis of Alström syndrome, it can be helpful to confirm a diagnosis. If a mutation is not identified in both copies of the ALMS1 gene of an individual suspected to have Alström syndrome, it does not rule out the diagnosis.[4]
Last updated: 6/14/2016

Alström syndrome is diagnosed based on clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis can be complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alström syndrome, although it can be useful to confirm a diagnosis.[4][2]

A table listing diagnostic criteria categorized by age is available through GeneReviews. 
Last updated: 6/14/2016

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
There is no specific treatment for Alström syndrome. Treatment is focused on managing the symptoms present in each individual. This may involve a team of specialists including but not limited to: pediatricians, cardiologists, audiologists (hearing specialists), ophthalmologists, endocrinologists, and orthopaedists.[2]

Treatment may include:[2][4]
  • Specially-tinted, prescription glasses and vision aids to assist with vision loss
  • Hearing aids and cochlear implants for hearing loss
  • Dietary measures, exercise programs, and oral medications and/or insulin to control diabetes
  • ACE inhibitors and other medications to manage heart and kidney problems with some individuals requiring a kidney or heart transplant
  • Hormone therapy if the male testes or female ovaries produce lower than average levels
Alstrom Syndrome International offers a listing of recommended monitoring guidelines on their website. Click on the link for more information. 
Last updated: 6/22/2016
The prognosis for Alström syndrome varies depending on the progression of symptoms, specifically heart and kidney disease. The lifespan and overall quality of life for individuals with Alström syndrome can be improved by early diagnosis, treatment, surveillance, and proper management of symptoms.[3][5]
Last updated: 6/15/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Bardet-Biedl syndrome, Biemond syndrome type 2, Wolfram syndrome, Cohen syndrome, familial isolated DCM and mitochondrial disorders.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Alström syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Alström syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Alström syndrome:
    Alström Research Connect (ARC)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Alstrom Syndrome International, a supporting organization, offers information on Alström syndrome 
  • Genetics Home Reference (GHR) contains information on Alström syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alström syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What percentage of patients with Alström syndrome become deaf? What is the average age of deafness? See answer


  1. Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
  2. Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
  3. J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64.
  4. Marshall J, Paisey RB, Carey C, Macdermott S. Alström syndrome. GeneReviews. May 31, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1267/.
  5. Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett, Tarekegn Geberhiwot. High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. Orphanet J Rare Dis. Nov 24 2015; 10(149):http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657378/.