Bowen–Conradi syndrome

Bowen–Conradi syndrome
Synonyms	Bowen–Conradi syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Failure to thrive, microcephaly, micrognathia, clinodactyly, rocker-bottom feet, cryptorchidism
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the EMG1 gene
Risks	Autosomal recessive inheritance, higher prevalence in Hutterite populations
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Trisomy 18, Smith–Lemli–Opitz syndrome
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	Poor, often results in early childhood death
Frequency	Rare, more common in Hutterite communities
Deaths	N/A

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

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

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

Diagnosis of Bowen-Conradi syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Bowen-Conradi syndrome. Treatment is supportive and based on the signs and symptoms present in each individual.

Prognosis

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

• Genetic disorders
• Growth retardation
• Intellectual disability

External Links

• GeneReviews: Bowen-Conradi Syndrome
• National Organization for Rare Disorders: Bowen-Conradi Syndrome