Alström syndrome

Title

Other Names:

ALMS; ALSS; Alstrom's syndrome; ALMS; ALSS; Alstrom's syndrome; Alstrom syndrome See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases See More

Summary Summary

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

Symptoms Symptoms

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		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
Seizures	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 abnormalities 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
Kyphosis	Hunched back Round back [ more ]	0002808
Menstrual irregularities	Menstrual irregularity	0000858
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	Abnormal curving of the spine	0002650
Subcapsular cataract		0000523
Visual loss	Loss of vision Vision loss [ more ]	0000572

Showing of 84 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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

Prognosis Prognosis

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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

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 (see these terms) and mitochondrial disorders. Visit the Orphanet disease page for more information.

Research Research

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.

Organizations Organizations

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

Alstrom Syndrome International
14 Whitney Farm Road
Mount Desert, ME 04660
Toll-free: 800-371-3628
E-mail: info@alstrom.org
Website: http://www.alstrom.org

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).

Do you know of an organization? We want to hear from you.

Living With Living With

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

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
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.
Marshall J, Paisey RB, Carey C, Macdermott S. Alström syndrome. GeneReviews. May 31, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1267/.
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/.