Alström syndrome

Definition

Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.

Causes, incidence, and risk factors

Alström syndrome is an autosomal recessive inherited disorder. This means that a person must inherit a copy of the defective gene from both parents to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.

The altered gene, ALMS1, has been found. However, it is not yet known how this gene causes the disorder.

Symptoms

  • Blindness or severe vision impairment in infancy
  • Dark patches of skin (acanthosis nigricans)
  • Deafness
  • Impaired heart function (cardiomyopathy), which may lead to heart failure
  • Obesity
  • Progressive kidney failure
  • Slowed growth
  • Symptoms of childhood-onset or type 2 diabetes

Occasionally, the following can also occur:

  • Gastrointestinal reflux
  • Hypothyroidism
  • Liver dysfunction
  • Small penis

Signs and tests

An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.

Tests may be done to check:

Treatment

There is no specific treatment for this syndrome. Treatment for symptoms may include:

  • Diabetes medication
  • Hearing aids
  • Heart medications
  • Thyroid hormone replacement

Support Groups

Alström Syndrome International --

Expectations (prognosis)

The following are likely to develop:

  • Deafness
  • Permanent blindness
  • Type 2 diabetes

Kidney and liver failure may get worse.

Complications

  • Complications from diabetes
  • Coronary artery disease (from diabetes and high cholesterol)
  • Fatigue and shortness of breath (if poor heart function isn't treated)

Calling your health care provider

Call your health care provider if you suspect symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you suspect that your infant or child cannot see or hear normally.

References

Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's The Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 41.

See also:

  • Special Topic

    Autosomal recessive

    Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal must be present in order for the disease or trait to develop.

  • Symptoms

    Hearing loss

    Ear anatomy

    Hearing loss is the total or partial inability to hear sound in one or both ears. See also:

  • Disease

    Diabetes

    Endocrine glands

    Diabetes is a chronic (lifelong) disease marked by high levels of sugar in the blood. See also:

  • Symptoms

    Overweight

    Different types of weight gain

    Nearly two-thirds of the United States population is overweight. There are many ways to determine if a person is overweight, but experts believe that a person’s body mass index (BMI) is the best way to assess an adult’s weight in relation to their height. A BMI between 18.5 and 24.9 is ...

  • Symptoms

    Blindness and vision loss

    Neurofibromatosis I, enlarged optic foramen

    Blindness 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 means you have very limited vision. Complete blindness means you cannot see anything and do not see light. (Most people who use the term ...

Review date:
July 27, 2010
Reviewed by:
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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