Overview
Dysostosis is a broad term used to describe a group of rare bone disorders where certain bones do not form properly during development. The Orphanet code 364559 refers to dysostosis as a category of skeletal malformations rather than a single specific disease. In dysostosis, the problem lies in how individual bones develop, which is different from conditions that affect the entire skeleton. The bones affected can vary widely depending on the specific type of dysostosis, and may include bones of the skull, face, spine, ribs, or limbs. People with dysostosis may notice differences in the shape or size of certain body parts, such as the face, hands, feet, or chest. Some forms are mild and cause mainly cosmetic concerns, while others can lead to significant functional problems like difficulty breathing, hearing loss, or limited movement. The severity depends on which bones are involved and how severely they are affected. Treatment for dysostosis is generally supportive and depends on the specific type and severity. Surgery may be needed to correct bone abnormalities, especially in the skull or face. Physical therapy, hearing aids, and other supportive measures can help manage symptoms. Genetic counseling is important for affected families, as many forms of dysostosis have a genetic basis. Research continues to better understand the underlying causes and develop improved treatments for these conditions.
Key symptoms:
Abnormal shape of the skullFacial bone differencesUnderdeveloped or missing bonesShort or malformed fingers or toesRib abnormalitiesHearing lossBreathing difficultiesAbnormal jaw developmentWidely spaced eyesCleft palateLimited joint movementShort statureSpinal abnormalitiesDental problems
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
6 eventsStony Brook University — NA
Uppsala University Hospital — NA
George Washington University — PHASE4
Providence Medical Technology, Inc. — NA
Ohio State University
Boston Children's Hospital
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Dysostosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Dysostosis at this time.
New trials open frequently. Follow this disease to get notified.
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 Dysostosis.
Community
No community posts yet. Be the first to share your experience with Dysostosis.
Start the conversation →Latest news about Dysostosis
Disease timeline:
New recruiting trial: Trigger Point Injections in Anterior Cervical Surgery
A new clinical trial is recruiting patients for Dysostosis
New recruiting trial: Opioid Sparing Effect of an ISP Nerve Block on Post-Op Pain Control in Posterior Cervical Spine Surgery
A new clinical trial is recruiting patients for Dysostosis
New recruiting trial: Fusion or no Fusion After Decompression of the Spinal Cord in Patients With Degenerative Cervical Myelopathy
A new clinical trial is recruiting patients for Dysostosis
New recruiting trial: Clinical and Radiological Outcomes of Posterior Cervical Fusion Supplemented With Interfacet Spacers
A new clinical trial is recruiting patients for Dysostosis
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.What specific type of dysostosis does my child have, and what gene is involved?,Which bones are affected, and how might this change as my child grows?,Will my child need surgery, and if so, when and what kind?,Should we have hearing and vision tested regularly?,What is the chance of this condition occurring again in future pregnancies?,Are there any complications we should watch for as my child develops?,Can you refer us to a specialized center with experience in this condition?
Common questions about Dysostosis
What is Dysostosis?
Dysostosis is a broad term used to describe a group of rare bone disorders where certain bones do not form properly during development. The Orphanet code 364559 refers to dysostosis as a category of skeletal malformations rather than a single specific disease. In dysostosis, the problem lies in how individual bones develop, which is different from conditions that affect the entire skeleton. The bones affected can vary widely depending on the specific type of dysostosis, and may include bones of the skull, face, spine, ribs, or limbs. People with dysostosis may notice differences in the shape
At what age does Dysostosis typically begin?
Typical onset of Dysostosis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Dysostosis?
22 specialists and care centers treating Dysostosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.