Bowen Conradi syndrome

Bowen-Conradi syndrome
Specialty	Medical genetics
Symptoms	Growth retardation, microcephaly, prominent nose, micrognathia
Usual onset	Congenital
Duration	Lifelong
Causes	Genetic mutation in the EMG1 gene
Risk factors	Autosomal recessive inheritance
Diagnostic method	Clinical evaluation, genetic testing
Treatment	Supportive care
Prognosis	Poor

Bowen-Conradi syndrome is a rare genetic disorder characterized by severe growth retardation, microcephaly, and distinctive facial features. It is an autosomal recessive condition, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Etiology

Bowen-Conradi syndrome is caused by mutations in the EMG1 gene, which is located on chromosome 12. The EMG1 gene is responsible for encoding a protein involved in the maturation of the small subunit of the ribosome, which is essential for protein synthesis. Mutations in this gene disrupt normal ribosomal function, leading to the clinical manifestations of the syndrome.

Clinical Features

Individuals with Bowen-Conradi syndrome typically present with:

• Severe intrauterine growth retardation
• Microcephaly (abnormally small head size)
• Prominent nose
• Micrognathia (small jaw)
• Camptodactyly (permanently bent fingers)
• Rocker-bottom feet
• Cryptorchidism in males

Diagnosis

Diagnosis of Bowen-Conradi syndrome is primarily based on clinical evaluation and the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the EMG1 gene. Prenatal diagnosis is possible if there is a known family history of the condition.

Management

There is no cure for Bowen-Conradi syndrome, and treatment is primarily supportive. Management may include:

• Nutritional support to address feeding difficulties
• Physical therapy to improve motor skills
• Surgical interventions for anatomical abnormalities, such as cryptorchidism

Prognosis

The prognosis for individuals with Bowen-Conradi syndrome is generally poor. Many affected infants do not survive beyond the first year of life due to complications such as respiratory infections and feeding difficulties.

Epidemiology

Bowen-Conradi syndrome is most commonly reported in the Hutterite population, a group with a high degree of genetic homogeneity. The incidence in this population is estimated to be 1 in 355 live births.

Also see

• Microcephaly
• Autosomal recessive disorder
• Genetic mutation
• Ribosome