Overview
Autosomal recessive brachyolmia is a very rare inherited skeletal disorder that primarily affects the spine. The name 'brachyolmia' comes from Greek words meaning 'short trunk,' which describes the main feature of this condition — a shortened torso compared to the arms and legs. People with this condition have flattened vertebrae (the bones of the spine), which is called platyspondyly. This leads to short-trunk short stature, meaning the person is shorter than average mainly because their spine is shorter than expected. The condition is present from childhood and may be noticed when a child appears to have a disproportionately short trunk compared to their limbs. Key symptoms include short stature, a short trunk, and characteristic changes visible on spine X-rays. Some individuals may also experience mild scoliosis (curvature of the spine) or kyphosis (rounding of the upper back). Joint and back pain may develop over time. Intelligence and other organ systems are typically not affected. There is currently no cure for autosomal recessive brachyolmia. Treatment focuses on managing symptoms, monitoring spinal changes, and supporting mobility and comfort. Orthopedic care and physical therapy are the main approaches. Pain management may be needed as the person grows older. The condition is lifelong, but many individuals can lead relatively independent lives with appropriate support and monitoring.
Also known as:
Key symptoms:
Short statureShort trunk compared to arms and legsFlattened vertebrae (seen on X-ray)Mild scoliosis (sideways curvature of the spine)Kyphosis (rounding of the upper back)Back painJoint stiffnessWaddling gaitBarrel-shaped chestLimited range of motion in the spine
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive brachyolmia.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive brachyolmia.
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 Autosomal recessive brachyolmia.
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Caregiver Resources
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Family & Caregiver Grants
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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 the spine involvement, and what changes should we watch for over time?,How often should we have spine X-rays or other imaging done?,What physical activities are safe, and are there any we should avoid?,Would physical therapy help, and how often should sessions occur?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested to see if they are carriers?,What accommodations might be helpful at school or work?
Common questions about Autosomal recessive brachyolmia
What is Autosomal recessive brachyolmia?
Autosomal recessive brachyolmia is a very rare inherited skeletal disorder that primarily affects the spine. The name 'brachyolmia' comes from Greek words meaning 'short trunk,' which describes the main feature of this condition — a shortened torso compared to the arms and legs. People with this condition have flattened vertebrae (the bones of the spine), which is called platyspondyly. This leads to short-trunk short stature, meaning the person is shorter than average mainly because their spine is shorter than expected. The condition is present from childhood and may be noticed when a child ap
How is Autosomal recessive brachyolmia inherited?
Autosomal recessive brachyolmia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive brachyolmia typically begin?
Typical onset of Autosomal recessive brachyolmia is childhood. Age of onset can vary across affected individuals.