Living with Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
A genetic condition that mainly affects brain development, and can also involve the eyes, heart, kidneys, and ears.
Understanding Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
It mainly affects development, causing intellectual disability, delayed speech and motor skills, or autism spectrum disorder. Some people also have low muscle tone, behavior problems, and seizures. Some have differences in brain structures, eye differences such as coloboma, or heart defects, most often a hole in the heart wall. It can resemble CHARGE syndrome. It can be seen during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Low muscle tone
- Feeding difficulties
- Slow growth
- Eye or heart differences
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 RERE 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 Simons Searchlight
- 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 lists changes in the RERE gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome; nedbeh; neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; nedbeh; rere-related neurodevelopmental syndrome
Patient organizations
- Simons SearchlightNeurodevelopmental disorder with or without anomalies of the brain, eye, or heart · United States
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