Overview
Dysostosis of genetic origin is a broad group of rare bone development disorders that are caused by changes (mutations) in a person's genes. The term 'dysostosis' refers to problems with how certain bones form during development in the womb. Unlike some other bone conditions that affect the entire skeleton, dysostoses typically affect specific bones or groups of bones, such as the skull, face, ribs, spine, or limbs. The exact bones involved and the severity of symptoms depend on which specific type of dysostosis a person has. People with these conditions may notice differences in the shape of their skull or face, shortened or missing fingers or toes, rib abnormalities, or problems with the spine. Some types can also affect hearing, breathing, or dental development. These conditions are present from birth, and many can be detected during pregnancy or shortly after delivery through physical examination and imaging. Treatment for dysostosis of genetic origin is mainly supportive and depends on which bones are affected. Surgery may be needed to correct skull, facial, or limb abnormalities. Hearing aids, dental care, physical therapy, and occupational therapy can also play important roles. There is currently no cure that addresses the underlying genetic cause, but ongoing care from a team of specialists can greatly improve quality of life and function. Because this is a category that includes many specific conditions, the outlook varies widely depending on the exact diagnosis.
Key symptoms:
Abnormal skull shapeFacial bone differencesShort or missing fingers or toesFused fingers or toesRib abnormalitiesSpine abnormalitiesHearing lossBreathing difficultiesDental problems or missing teethCleft palate or cleft lipUnderdeveloped jawWide-set or unusually shaped eyesLimb length differencesRestricted joint movement
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Dysostosis of genetic origin.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Dysostosis of genetic origin at this time.
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Specialists
View all specialists →No specialists are currently listed for Dysostosis of genetic origin.
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 of genetic origin.
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.What specific type of dysostosis does my child have, and which gene is involved?,Will my child need surgery, and if so, when and how many procedures are expected?,Should we have hearing and vision tested, and how often?,What therapies (physical, occupational, speech) would benefit my child?,Is there a risk that future children could also be affected, and should we consider genetic counseling?,Are there any clinical trials or new treatments being studied for this condition?,What specialists should be part of our care team, and how often should we see them?
Common questions about Dysostosis of genetic origin
What is Dysostosis of genetic origin?
Dysostosis of genetic origin is a broad group of rare bone development disorders that are caused by changes (mutations) in a person's genes. The term 'dysostosis' refers to problems with how certain bones form during development in the womb. Unlike some other bone conditions that affect the entire skeleton, dysostoses typically affect specific bones or groups of bones, such as the skull, face, ribs, spine, or limbs. The exact bones involved and the severity of symptoms depend on which specific type of dysostosis a person has. People with these conditions may notice differences in the shape of
At what age does Dysostosis of genetic origin typically begin?
Typical onset of Dysostosis of genetic origin is neonatal. Age of onset can vary across affected individuals.