Overview
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (sometimes referred to by its Orphanet code ORPHA:488613) is a rare genetic condition that affects brain development and the eyes. Children with this syndrome typically show signs early in life, including delays in reaching milestones like sitting, walking, and talking. The brain does not develop in the usual way, which leads to intellectual disability that can range from mild to severe. The condition also affects the eyes and the nerves that control vision, which is why it is called a 'neuro-ophthalmological' syndrome. This can cause problems with eye movement, vision loss, or abnormal appearance of the optic nerve. Seizures are another major feature, meaning the brain sometimes sends abnormal electrical signals that cause episodes of shaking, staring, or loss of awareness. Right now, there is no cure for this syndrome. Treatment focuses on managing symptoms — for example, anti-seizure medications to reduce seizures, glasses or other supports for vision problems, and therapies like speech, physical, and occupational therapy to help children reach their potential. A team of specialists usually works together to support affected individuals and their families.
Key symptoms:
Delayed development in areas like walking, talking, and learningIntellectual disability ranging from mild to severeSeizures or epilepsyAbnormal eye movements or difficulty controlling eye movementVision problems or vision lossAbnormal appearance of the optic nerve (the nerve connecting the eye to the brain)Low muscle tone (floppy muscles) in infancyDifficulty with coordination and balanceSpeech and language delaysBehavioral challenges
Clinical phenotype terms (29)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene or genetic change is causing this condition in my child, and what does that mean for our family?,What type of seizures does my child have, and which medication is most likely to help?,What vision problems should I watch for, and how often should my child see an eye specialist?,What therapies do you recommend, and how early should we start?,Are there any clinical trials or research studies we could participate in?,What should I do if my child has a prolonged seizure at home?,What educational and community support services are available for my child?
Common questions about Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
What is Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome?
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (sometimes referred to by its Orphanet code ORPHA:488613) is a rare genetic condition that affects brain development and the eyes. Children with this syndrome typically show signs early in life, including delays in reaching milestones like sitting, walking, and talking. The brain does not develop in the usual way, which leads to intellectual disability that can range from mild to severe. The condition also affects the eyes and the nerves that control vision, which is why it is called a 'n
How is Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome inherited?
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome typically begin?
Typical onset of Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.