Overview
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome is an extremely rare condition that affects multiple body systems, primarily the joints, eyes, and the electrical activity of the retina. The name describes its three main features: arthrogryposis (joint contractures present at birth that limit movement), oculomotor limitation (restricted eye movements), and electroretinal anomalies (abnormal electrical responses of the retina, the light-sensing tissue at the back of the eye). Babies born with this condition typically have stiff joints that are fixed in certain positions, making movement difficult. The eye movement problems can affect how well a person can look in different directions, and the retinal abnormalities may affect vision, though the degree varies between individuals. Because this syndrome is so rare, with very few cases described in the medical literature, the full range of symptoms and the best approaches to treatment are not completely understood. Treatment is mainly supportive and focuses on managing the individual symptoms. Physical therapy and orthopedic interventions may help improve joint mobility, while ophthalmologic care addresses the eye-related problems. Genetic counseling is recommended for affected families to understand the risk of recurrence. There is currently no cure or disease-specific therapy available for this condition.
Also known as:
Key symptoms:
Joint stiffness and contractures present at birthLimited range of motion in multiple jointsRestricted eye movementsAbnormal electrical activity of the retinaPossible vision problemsMuscle weakness or underdevelopmentDifficulty with fine motor skillsReduced mobilityPossible facial features related to limited muscle movementPotential feeding difficulties in infancy
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Arthrogryposis-oculomotor limitation-electroretinal anomalies 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 Arthrogryposis-oculomotor limitation-electroretinal anomalies 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
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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.How severe are my child's joint contractures, and what is the best plan for improving mobility?,What do the electroretinogram results mean for my child's vision long-term?,How often should my child see an ophthalmologist and an orthopedic specialist?,Is genetic testing recommended for our family, and what might it tell us?,What therapies or interventions should we start right away?,Are there any clinical trials or research studies we could participate in?,What support services are available to help with daily living and school?
Common questions about Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
What is Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome?
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome is an extremely rare condition that affects multiple body systems, primarily the joints, eyes, and the electrical activity of the retina. The name describes its three main features: arthrogryposis (joint contractures present at birth that limit movement), oculomotor limitation (restricted eye movements), and electroretinal anomalies (abnormal electrical responses of the retina, the light-sensing tissue at the back of the eye). Babies born with this condition typically have stiff joints that are fixed in certain positions, m
How is Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome inherited?
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome typically begin?
Typical onset of Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.