Beuren syndrome


Beuren Syndrome

Description, Cuases and Risk Factors:

Beuren syndrome is a supravalvular aortic stenosis with multiple areas of peripheral pulmonary arterial stenosis, mental retardation, and dental anomalies.

 Beuren syndrome

Alternative Names: Early hypercalcemia syndrome with elfin facies, elfin facies syndrome, elfin Fanconi-type idiopathic infantile hypercalcemia, hypercalcemia-supravalvar aortic stenosis, Williams-Beuren syndrome (WBS).

Williams syndrome is a genetic disorder characterized by developmental delay, unusual facial appearance, narrowing of the aorta (large artery that leaves the heart) and particular cognitive and personality profiles.

It is a rare condition caused by missing genetic material on one copy of chromosome #7. The problem is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50 % chance of passing the disorder on to each child. It occurs in about 1 in 20, 000 births.

One of the missing genes is the gene that produces elastin, a protein that gives elasticity to blood vessels and other tissues in the body. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition

Williams syndrome is a rare condition caused by missing genes. Parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children. The cause usually occurs randomly.

Williams syndrome occurs in about 1 in 8,000 births.

One of the 25 missing genes is the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition.

Symptoms:

Symptoms Include

    Mental retardation that is mild to moderate.

  • Short stature relative to family.

  • Developmental delay.

  • Initially delayed speech development may turn into relative loquacious speech later and relatively strong learning by hearing.

  • Distractibility.

  • learning disorders.

  • blood vessel narrowing including: supravalvular aortic stenosis, pulmonic stenosis and pulmonary artery stenosis.

  • Pectus excavatum (concavity of the chest).

  • Clinodactyly (an inward bend of the small finger).

  • Blood vessel narrowing including supravalvular aortic stenosis, pulmonary stenosis, and pulmonary artery stenosis.

  • High blood calcium level (hypercalcemia) that may cause seizures and rigid muscles.

  • Farsightedness.

  • High blood pressure.

  • Slack joints that may change to stiffness as patient gets older.

  • Unusual pattern ("stellate" or star-like) in iris of the eye.

Diagnosis:

Tests for Williams syndrome:

    Blood test for missing chromosome (FISH test).

  • Blood pressure check.

  • Echocardiography combined with Doppler ultrasound.

  • Kidney ultrasound.

  • There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams syndrome who wish to conceive.

Treatment:

There is no cure for Williams syndrome. Avoid taking extra calcium and vitamin D. Treat high levels of blood calcium, if present. Blood vessel narrowing can be a significant health problem and is treated based on its severity.

Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children (for example, verbal strengths can help make up for other weaknesses). Other treatments are based on a patient's symptoms.

It can help to have treatment coordinated by a geneticist who is experienced with Williams syndrome.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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