Overview
Radioulnar synostosis-microcephaly-scoliosis syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes three of its main features: radioulnar synostosis (where the two bones of the forearm, the radius and ulna, are fused together), microcephaly (a smaller-than-expected head size), and scoliosis (an abnormal sideways curve of the spine). This syndrome can also involve intellectual disability, short stature, and other skeletal abnormalities. Because the forearm bones are fused, affected individuals typically have difficulty rotating their forearms, which limits their ability to turn their palms up and down. This can make everyday tasks like eating, writing, and dressing more challenging. The microcephaly is often present from birth and may be associated with developmental delays and learning difficulties. Scoliosis can range from mild to severe and may worsen during growth periods. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms. Orthopedic interventions may help with skeletal problems, and physical and occupational therapy can improve function and independence. Developmental support and special education services are often needed for children with intellectual disability. Regular monitoring by a team of specialists is important to address the various aspects of this condition as they arise.
Also known as:
Key symptoms:
Fusion of the forearm bones (cannot rotate forearms normally)Smaller-than-expected head sizeAbnormal curvature of the spine (scoliosis)Short statureIntellectual disability or learning difficultiesDevelopmental delaysLimited range of motion in the armsUnusual facial featuresLow muscle toneHip abnormalitiesDelayed speech developmentDifficulty with fine motor skills
Clinical phenotype terms (19)— 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 Radioulnar synostosis-microcephaly-scoliosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Radioulnar synostosis-microcephaly-scoliosis 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 Radioulnar synostosis-microcephaly-scoliosis 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.How severe is my child's forearm fusion, and are there surgical options to improve arm function?,How often should we monitor the scoliosis, and at what point would surgery be recommended?,What developmental milestones should we be watching for, and when should we be concerned?,Is genetic testing available to identify the exact cause, and should other family members be tested?,What therapies (physical, occupational, speech) would benefit my child the most right now?,Are there any clinical trials or research studies we could participate in?,What educational supports and accommodations should we request at school?
Common questions about Radioulnar synostosis-microcephaly-scoliosis syndrome
What is Radioulnar synostosis-microcephaly-scoliosis syndrome?
Radioulnar synostosis-microcephaly-scoliosis syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes three of its main features: radioulnar synostosis (where the two bones of the forearm, the radius and ulna, are fused together), microcephaly (a smaller-than-expected head size), and scoliosis (an abnormal sideways curve of the spine). This syndrome can also involve intellectual disability, short stature, and other skeletal abnormalities. Because the forearm bones are fused, affected individuals typically have difficulty rotating their forear
How is Radioulnar synostosis-microcephaly-scoliosis syndrome inherited?
Radioulnar synostosis-microcephaly-scoliosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Radioulnar synostosis-microcephaly-scoliosis syndrome typically begin?
Typical onset of Radioulnar synostosis-microcephaly-scoliosis syndrome is neonatal. Age of onset can vary across affected individuals.