Overview
Humerospinal dysostosis is an extremely rare skeletal condition that primarily affects the development of the upper arm bone (humerus) and the spine. The name comes from 'humero' (referring to the humerus bone in the upper arm) and 'spinal dysostosis' (meaning abnormal bone formation in the spine). People born with this condition typically have shortened or malformed upper arm bones and abnormalities of the vertebrae (the bones that make up the spine). These skeletal problems are present at birth and can lead to short stature, limited arm movement, and spinal deformities. The condition may also be associated with other skeletal abnormalities, including rib anomalies and other limb differences. Because so few cases have been described in the medical literature, our understanding of the full range of symptoms and the natural history of this disease is limited. Some affected individuals may have additional features beyond the bones, but the hallmark findings involve the humerus and spine. There is currently no cure for humerospinal dysostosis. Treatment is supportive and focuses on managing symptoms. Orthopedic care is the cornerstone of management, which may include physical therapy, bracing, and in some cases surgery to address spinal deformities or improve limb function. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Shortened or malformed upper arm bonesAbnormal shape or formation of spinal vertebraeShort statureLimited range of motion in the armsSpinal curvature or deformityRib abnormalitiesAsymmetry of the limbsJoint stiffnessDifficulty with arm movements and reaching
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventUniversity Hospital, Basel, Switzerland — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Humerospinal dysostosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Humerospinal dysostosis at this time.
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Rare Disease Specialist
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 Humerospinal dysostosis.
Community
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Start the conversation →Latest news about Humerospinal dysostosis
Disease timeline:
New trial: Role of Spinal Load in the Pathophysiology of Lumbar Spinal Stenosis
Phase NA trial recruiting. Collection of health-related data
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 the skeletal abnormalities in my child's case, and what can we expect as they grow?,Is genetic testing recommended, and could it help us understand the cause or recurrence risk?,What type of physical or occupational therapy would be most helpful?,How often should we have imaging done to monitor the spine?,Are there any signs or symptoms I should watch for that would need urgent medical attention?,Would surgery be beneficial at any point, and if so, when is the best timing?,Are there other specialists we should be seeing as part of our care team?
Common questions about Humerospinal dysostosis
What is Humerospinal dysostosis?
Humerospinal dysostosis is an extremely rare skeletal condition that primarily affects the development of the upper arm bone (humerus) and the spine. The name comes from 'humero' (referring to the humerus bone in the upper arm) and 'spinal dysostosis' (meaning abnormal bone formation in the spine). People born with this condition typically have shortened or malformed upper arm bones and abnormalities of the vertebrae (the bones that make up the spine). These skeletal problems are present at birth and can lead to short stature, limited arm movement, and spinal deformities. The condition may al
At what age does Humerospinal dysostosis typically begin?
Typical onset of Humerospinal dysostosis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Humerospinal dysostosis?
1 specialists and care centers treating Humerospinal dysostosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.