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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Blindness		0000618
Cone/cone-rod dystrophy		0000548
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
Otitis media	Middle ear infection	0000388
Progressive sensorineural hearing impairment		0000408
Short stature	Decreased body height Small stature [ more ]	0004322
Visual loss	Loss of vision Vision loss [ more ]	0000572
30%-79% of people have these symptoms
Abnormal liver physiology		0031865
Acanthosis nigricans	Darkened and thickened skin	0000956
Chronic bronchitis		0004469
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Dorsocervical fat pad	Buffalo hump	0025383
Elevated gamma-glutamyltransferase level		0030948
Elevated hepatic transaminase	High liver enzymes	0002910
Hypergonadotropic hypogonadism		0000815
Hyperinsulinemia		0000842
Hyperostosis frontalis interna		0004438
Hypertension		0000822
Kyphosis	Hunched back Round back [ more ]	0002808
Lumbar scoliosis		0004626
Optic disc pallor		0000543
Pes planus	Flat feet Flat foot [ more ]	0001763
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Polyphagia	Voracious appetite	0002591
Receptive language delay		0010863
Recurrent pneumonia		0006532
Recurrent sinusitis		0011108
Restrictive ventilatory defect	Stiff lung or chest wall causing decreased lung volume	0002091
Retinal pigment epithelial atrophy		0007722
Sensory impairment		0003474
Specific learning disability		0001328
Thoracic scoliosis		0002943
Truncal obesity		0001956
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
5%-29% of people have these symptoms
Abnormal coronary artery physiology		0025496
Abnormality of dental color	Abnormality of tooth color Abnormality of tooth shade [ more ]	0011073
Accelerated skeletal maturation	Advanced bone age Early bone maturation [ more ]	0005616
Autistic behavior		0000729
Chronic pulmonary obstruction		0006510
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Decreased circulating T4 level		0031507
Decreased fertility in males		0012041
Decreased testicular size	Small testes Small testis [ more ]	0008734
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Delayed ability to sit		0025336
Delayed ability to stand		0025335
Delayed ability to walk		0031936
Detrusor sphincter dyssynergia		0025488
Drusen		0011510
Dysuria	Painful or difficult urination	0100518
Epigastric pain		0410019
Esophageal varix	Enlarged vein in esophagus	0002040
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Frontal balding		0002292
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Gingivitis	Inflamed gums Red and swollen gums [ more ]	0000230
Glomerulonephritis		0000099
Growth hormone deficiency		0000824
Gynecomastia	Enlarged male breast	0000771
Hepatic failure	Liver failure	0001399
Hepatic fibrosis		0001395
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hepatitis	Liver inflammation	0012115
Hepatomegaly	Enlarged liver	0002240
Hepatosplenomegaly	Enlarged liver and spleen	0001433
Hirsutism	Excessive hairiness	0001007
Hyoplasia of the Leydig cells		0010790
Incoordination	Difficulties in coordination Incoordination of limb movements Limb incoordination [ more ]	0002311
Increased circulating androgen level		0030348
Increased thyroid-stimulating hormone level		0002925
Irregular menstruation	Menstrual irregularity	0000858
Micropenis	Short penis Small penis [ more ]	0000054
Myocardial fibrosis		0001685
Oligospermia	Low sperm count	0000798
Polycystic ovaries		0000147
Poor fine motor coordination		0007010
Portal hypertension		0001409
Posterior subcapsular cataract		0007787
Primary hypothyroidism		0000832
Pulmonary arterial hypertension	Increased blood pressure in blood vessels of lungs	0002092
Recurrent cystitis	Recurrent bladder infections	0012786
Reduced number of teeth	Decreased tooth count	0009804
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
Severe sensorineural hearing impairment		0008625
Short finger	Stubby finger	0009381
Short toe	Short toes Stubby toes [ more ]	0001831
Splenomegaly	Increased spleen size	0001744
Stage 5 chronic kidney disease		0003774
Testicular fibrosis		0012860
Thickened ears		0009894
Urinary incontinence	Loss of bladder control	0000020
Urinary retention		0000016
Urinary urgency	Overactive bladder	0000012
Vestibular dysfunction		0001751
Visual field defect	Partial loss of field of vision	0001123
1%-4% of people have these symptoms
Ataxia		0001251
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Delayed menarche	Delayed start of first period	0012569
Hepatic encephalopathy		0002480
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Pancreatitis	Pancreatic inflammation	0001733
Precocious puberty in females		0010465
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Typical absence seizure		0011147
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
Alopecia	Hair loss	0001596
Asthma		0002099
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
Global developmental delay		0001263
Hyperuricemia	High blood uric acid level	0002149
Hypothyroidism	Underactive thyroid	0000821
Insulin-resistant diabetes mellitus	Insulin resistant diabetes Insulin-resistant diabetes [ more ]	0000831
Multinodular goiter		0005987
Nephritis	Kidney inflammation	0000123
Pigmentary retinopathy		0000580
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Scoliosis		0002650
Subcapsular cataract		0000523
Tubulointerstitial nephritis		0001970

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

Last updated: 2/1/2021

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 MedlinePlus Genetics.

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 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.

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)

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
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Alström syndrome. This website is maintained by the National Library of Medicine.
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

Rare Disease Day at NIH 2021
March 1, 2021

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/.