Living with Donnai-Barrow syndrome
An inherited condition with distinct facial features, severe hearing loss, vision problems, and differences in the brain.
Understanding Donnai-Barrow syndrome
People have unusual facial features, such as wide-set bulging eyes and a short nose with a flat bridge. They have severe hearing loss from the inner ear and often vision problems, including very high nearsightedness and retinal detachment. The tissue connecting the two halves of the brain is usually underdeveloped or absent. Most have mild to moderate intellectual disability. Some are born with a hole in the diaphragm or an opening in the belly wall.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe hearing loss (sensorineural)
- Very high nearsightedness (myopia)
- Retinal detachment
- Underdeveloped corpus callosum (part of the brain)
- Hole in the diaphragm at birth
- Opening in the belly wall (omphalocele)
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, digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in LRP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hearing Loss Association of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Hearing Loss Association of America
- 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 Hearing Loss Association of America and other patient organizations
- 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
GARD says changes in the LRP2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dbs/foar syndrome; diaphragmatic hernia-exomphalos-corpus callosum agenesis; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
Patient organizations
- Hearing Loss Association of AmericaDonnai-Barrow syndrome · United States
- National Organization of Disorders of the Corpus CallosumDonnai-Barrow syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Donnai-Barrow syndrome.
Explore research for Donnai-Barrow syndrome
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