Living with Bowen-Conradi syndrome
A rare genetic condition that affects many parts of the body, with small size, feeding problems, and slow growth from birth.
Understanding Bowen-Conradi syndrome
Babies have low birth weight, feeding problems, and very slow growth. The head is small and long, the jaw and chin small, and the nose prominent. Fingers may curve or stay bent, the feet may be rounded outward (rocker-bottom), and joints are stiff. Babies do not reach milestones like smiling or sitting.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Feeding difficulties in infancy
- Very slow growth
- Small lower jaw (micrognathia)
- Stiff joints and bent or curved fingers
- Rocker-bottom feet
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in EMG1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the EMG1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bowen hutterite syndrome; bowen hutterite syndrome (formerly); bowen hutterite syndrome, formerly; bowen syndrome, hutterite type; bowen-conradi hutterite syndrome; bwcns
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bowen-Conradi syndrome.
Explore research for Bowen-Conradi syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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