Dubowitz syndrome

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Dubowitz Syndrome

Dubowitz Syndrome (pronounced duh-BOW-witz sin-drome) is a rare, genetic disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, and an increased risk of malignancy.

Etymology

The syndrome is named after Victor Dubowitz, a British pediatric neurologist who first described the condition in 1965.

Symptoms

The symptoms of Dubowitz Syndrome can vary greatly among individuals. Common symptoms include microcephaly (small head size), micrognathia (small jaw), ptosis (drooping of the upper eyelid), cryptorchidism (undescended testes in males), and hypotonia (low muscle tone).

Causes

The exact cause of Dubowitz Syndrome is currently unknown. However, it is believed to be genetic in nature, possibly due to mutations in the DNA of affected individuals.

Diagnosis

Diagnosis of Dubowitz Syndrome is typically based on clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, MRI scans, and blood tests.

Treatment

There is no cure for Dubowitz Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational services, and other interventions to help manage symptoms and improve quality of life.

Prognosis

The prognosis for individuals with Dubowitz Syndrome varies. Some individuals may have mild symptoms and live a normal lifespan, while others may experience severe complications and have a shortened lifespan.

See Also

External links

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