Bowen-Conradi syndrome

Bowen-Conradi syndrome (pronounced boh-en kuh n-rahy-dee) is a rare genetic disorder that is primarily characterized by growth retardation, intellectual disability, and distinctive facial features. The syndrome is named after the two doctors, Dr. Jack Bowen and Dr. David Conradi, who first described it in 1969.

Etymology

The term "Bowen-Conradi syndrome" is derived from the names of the two doctors who first described the condition. Dr. Jack Bowen and Dr. David Conradi were Canadian physicians who specialized in pediatrics and genetics, respectively. They first reported the syndrome in 1969 after observing a cluster of similar symptoms in several patients.

Symptoms

The primary symptoms of Bowen-Conradi syndrome include:

Growth retardation: Affected individuals often have low birth weight and fail to grow at the expected rate.
Intellectual disability: Most individuals with Bowen-Conradi syndrome have moderate to severe intellectual disability.
Distinctive facial features: These may include a small head (microcephaly), a prominent nose, and a thin upper lip.

Other symptoms may include hypotonia (low muscle tone), seizures, and various skeletal abnormalities.

Causes

Bowen-Conradi syndrome is caused by mutations in the EMC1 gene. This gene provides instructions for making a protein that is involved in the proper folding and function of other proteins within cells. Mutations in the EMC1 gene disrupt this process, leading to the symptoms of Bowen-Conradi syndrome.

Diagnosis

Diagnosis of Bowen-Conradi syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the EMC1 gene.

Treatment

There is currently no cure for Bowen-Conradi syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy for hypotonia, special education services for intellectual disability, and management of other medical complications as they arise.

Prognosis

The prognosis for individuals with Bowen-Conradi syndrome varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to complications such as severe intellectual disability or recurrent infections.

External links

Medical encyclopedia article on Bowen-Conradi syndrome
Wikipedia's article - Bowen-Conradi syndrome

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Bowen-Conradi syndrome