Dubowitz

Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation, a high-pitched voice, and a distinctive facial appearance. It was first described by Victor Dubowitz in 1965. The exact cause of the syndrome is unknown, but it is believed to be due to a mutation in an unknown gene.

Symptoms and signs

The symptoms of Dubowitz syndrome can vary greatly from person to person. However, some common symptoms include:

• Microcephaly: This is a condition where the head is smaller than normal. It is often present at birth and can lead to developmental delays.
• Growth retardation: Children with Dubowitz syndrome often have a low birth weight and continue to grow at a slower rate than their peers.
• High-pitched voice: Many people with Dubowitz syndrome have a distinctive high-pitched voice.
• Distinctive facial features: These can include a small lower jaw, a high forehead, a thin upper lip, and wide-set eyes.

Causes

The exact cause of Dubowitz syndrome is unknown. It is believed to be a genetic disorder, but the specific gene mutation has not been identified. It is thought to be inherited in an autosomal recessive manner, which means that both parents must carry the gene mutation for a child to be affected.

Diagnosis

Diagnosis of Dubowitz syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis, but it is not always conclusive due to the unknown nature of the gene mutation.

Treatment

There is no cure for Dubowitz syndrome. Treatment is focused on managing the symptoms and improving the quality of life for the individual. This may include physical therapy, speech therapy, and educational support.

See also

• List of genetic disorders
• Microcephaly
• Autosomal recessive inheritance

References

Dubowitz Resources
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