ALSTROM SYNDROME

Also known as

  • ALMS
  • Alstrom-Hallgreen syndrome

Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

Condition details

The condition is often difficult to diagnose but once a diagnosis has been made we can provide access to specialist multi-disciplinary clinics. A progressive loss of vision and gearing, a form of heart disease that enlarges and weakens the heart muscle, obesity, type 2 diabetes and short stature are all characteristics. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

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Photos of affected individuals

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Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Heart Failure Dislike of bright lights. Wobbly eyes. Severe Visual Impairment
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Dilated Cardiomyopathy Photophobia Nystagmus Cone Rod Dystrophy
Toddler
Lay terms Clinical terms
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Severe Visual Impairment Hearing loss Heart problems Excessive weight gain
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Cone Rod Dystrophy Sensorineural Hearing Loss Dilated Cardiomyopathy Obesity
Child 4-10
Lay terms Clinical terms
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Severe Visual Impairment Hearing loss Heart problems Excessive weight gain Dark patches of skin Regular chest infections
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Cone Rod Dystrophy Sensorineural Hearing Loss Dilated Cardiomyopathy Obesity Insulin resistant
Child 10-18
Lay terms Clinical terms
  • Total loss of vision Not everyone with Alstrom Syndrome will experience all of these symptoms Hearing loss Heart problems Excessive weight gain Dark patches of skin Regular chest infections Liver and Kidney problems Bladder and bowel problems
  • Blindness Not everyone with Alstrom Syndrome will experience all of these symptoms Sensorineural Hearing Loss Dilated Cardiomyopathy Obesity Insulin resistant Type 2 Diabetes Renal and hepatic dysfunction Hypertriglyceridaemia
Adult
Lay terms Clinical terms
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Total loss of vision Hearing loss Heart problems Excessive weight gain Dark patches of skin Regular chest infections Liver and Kidney problems Bladder and bowel problems
  • Not everyone with Alstrom Syndrome will experience all of these symptoms Blindness Sensorineural Hearing Loss Dilated Cardiomyopathy Obesity Insulin resistant Type 2 Diabetes Renal and hepatic dysfunction Hypertriglyceridaemia Dialysis may be required

Affected genes identified to date

  • ALMS1

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

No.

How many are affected?

500 worldwide

Support groups and organisations

Mrs Kerry Leeson-Beevers
Alstrom Syndrome UK
14 Hellaby Hall Road
Hellaby
Rotherham
South Yorkshire
S66 8HL
England
Tel 01709 210151
Facebook

Known experts

Professor Timothy Barret
Field of interestPaeditric Endocrinologist
Birmingham Childrens Hospital
Birmingham Children's Hospital
Steelhouse Lane
Birmingham
Midlands
B4 6NH
England
Tel 0121 3339999
Facebook
Dr Tarek Hiwot
Field of interestConsultant in Metabolic Disorders
Queen Elizabeth Hospital
Queen Elizabeth Hospital
Mindelsohn Way
Edgbaston
Birmingham
Midlands
B15 2WB
England
Tel 0121 6272000
Facebook
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