Bowen Conradi Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Bowen Conradi Syndrome?
A pediatrician or family doctor usually coordinates care. Because the condition affects many parts of the body, the child may also see specialists such as a medical geneticist, a cardiologist, and a feeding specialist. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Bowen Conradi syndrome?
Bowen Conradi syndrome is a very rare genetic condition. It is caused by a change in a gene passed down from parents. Babies born with it grow slowly before and after birth and have many physical differences. Most cases have been reported in Hutterite families in western Canada and the United States.
Babies with Bowen Conradi syndrome are smaller than expected during pregnancy, a problem called intrauterine growth restriction, and continue to grow slowly after birth. They have a small head, a small jaw, and unusual facial features.
Symptoms
- Slow growth before birth and after birth
- A head that is smaller than normal, a condition called microcephaly
- A small jaw and a beaked nose
- Joint stiffness or unusual positioning of the hands and feet
- Feeding problems and trouble gaining weight
- Heart defects, which are problems with the structure of the heart
Causes and who gets it
Bowen Conradi syndrome is caused by changes in a gene called EMG1. It is inherited in an autosomal recessive pattern, meaning a child must get one changed copy from each parent. It is extremely rare, with most reported cases in Hutterite families of western Canada, though any parents who both carry the changed gene could have an affected child.
How doctors diagnose it
Doctors may suspect the condition before birth if an ultrasound shows poor growth. After birth, they look at the baby's symptoms and physical features. Genetic testing can confirm the diagnosis by finding changes in the EMG1 gene.
Treatment
There is no cure. Care focuses on each child's specific problems, which may include feeding support, nutrition help for poor growth, and surgery or medicine for heart defects.
When to see a doctor
If an ultrasound during pregnancy shows poor growth, doctors may recommend genetic testing and closer monitoring. After birth, see a doctor if a baby has trouble feeding, is not gaining weight, or has unusual facial features or stiff joints. Early medical care is important.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either type can manage everyday care, including well-child visits, growth checks, and feeding support, and would refer the family to a specialist when needed while helping coordinate everything.
Common questions
Is Bowen-Conradi syndrome inherited?
Yes. A child must inherit one changed copy of the EMG1 gene from each parent. Parents who each carry one changed copy usually have no symptoms themselves.
How common is Bowen-Conradi syndrome?
It is extremely rare. Most reported cases have been in Hutterite families in western Canada, though it could occur in any family where both parents carry the changed gene.
Is there a cure for Bowen-Conradi syndrome?
There is no cure. Care focuses on treating each child's specific problems, such as feeding trouble or heart defects.
Can it be found before birth?
Sometimes. An ultrasound during pregnancy may show slow growth, and genetic testing can confirm the diagnosis in some cases.
Sources
- NIH Genetic and Rare Diseases Information Center - Bowen-Conradi syndrome
- MedlinePlus Genetics - Bowen-Conradi syndrome
- MedlinePlus - Birth Defects
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
