From the Research
Bowen-Conradi syndrome is a rare autosomal recessive genetic disorder that causes severe developmental abnormalities and is typically fatal in early infancy, characterized by growth restriction, microcephary, distinctive facial features, joint contractures, and severe developmental delays, as described in the most recent study 1.
Definition and Characteristics
The condition is caused by mutations in the EMG1 gene, which affects ribosome biogenesis and protein synthesis, leading to various developmental abnormalities and early infant death 2. The clinical features of Bowen-Conradi syndrome include:
- Growth restriction before and after birth
- Microcephary (small head size)
- Distinctive facial features, including a prominent nose and micrognathia (small jaw)
- Joint contractures
- Severe developmental delays
Management and Treatment
There is no specific treatment or cure for Bowen-Conradi syndrome; management is supportive and focuses on addressing symptoms and complications, including:
- Feeding support
- Respiratory care
- Physical therapy
- Palliative care measures to improve comfort
Epidemiology and Genetics
The condition is most common in Hutterite populations of North America, where the carrier frequency is approximately 1 in 10 individuals 3. Genetic counseling is recommended for affected families, as parents of an affected child have a 25% chance of having another affected child in future pregnancies. Prenatal diagnosis is possible through genetic testing if the specific mutation is known 4.
Importance of Molecular Testing
Molecular testing is now available for Bowen-Conradi syndrome, and it is essential to confirm the diagnosis, especially in the Hutterite population, where the condition is common 4. The test can help identify the specific mutation in the EMG1 gene, which can aid in genetic counseling and prenatal diagnosis. Genetic counseling and molecular testing are crucial for families affected by Bowen-Conradi syndrome to make informed decisions about their reproductive health and to provide appropriate care for their children.