Bowen–Conradi syndrome
Bowen–Conradi syndrome is a rare genetic disorder that is primarily characterized by growth retardation, intellectual disability, and distinctive facial features. It is most commonly found in the Hutterite population, a group of Anabaptists who live in North America.
Symptoms and Signs[edit | edit source]
The symptoms of Bowen-Conradi syndrome typically become apparent shortly after birth. These may include:
- Growth retardation
- Intellectual disability
- Distinctive facial features such as a small head (microcephaly), a prominent nose, and a small lower jaw (micrognathia)
- Other physical abnormalities such as short stature, skeletal abnormalities, and heart defects
Causes[edit | edit source]
Bowen-Conradi syndrome is caused by mutations in the EMC1 gene. This gene provides instructions for making a protein that is involved in the normal functioning of the endoplasmic reticulum, a structure within cells that is involved in protein processing and transport.
Diagnosis[edit | edit source]
Diagnosis of Bowen-Conradi syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Bowen-Conradi syndrome. Treatment is supportive and based on the signs and symptoms present in each individual.
Prognosis[edit | edit source]
The prognosis for individuals with Bowen-Conradi syndrome is poor. Most affected individuals do not survive past infancy due to the severe health problems associated with this condition.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- GeneReviews: Bowen-Conradi Syndrome
- National Organization for Rare Disorders: Bowen-Conradi Syndrome
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Contributors: Prab R. Tumpati, MD