Overview
Dysostosis with combined reduction defects of upper and lower limbs is an extremely rare skeletal disorder that is present at birth. In this condition, parts of the bones in both the arms and legs do not form properly during development in the womb. The term "dysostosis" refers to abnormal bone formation, and "reduction defects" means that certain bones are partially or completely missing. This affects both the upper limbs (arms, hands, fingers) and lower limbs (legs, feet, toes), which distinguishes it from conditions where only one set of limbs is involved. Because the bones of the arms and legs are shortened, missing, or malformed, children born with this condition may have noticeably shorter or differently shaped limbs. The severity can vary widely — some individuals may have mild shortening of certain bones, while others may have more significant absence of limb segments. Fingers and toes may also be affected, with some being fused, missing, or unusually short. There is currently no cure for this condition. Treatment focuses on improving function and quality of life. This may include orthopedic surgery to correct bone alignment, prosthetic devices to assist with mobility and hand function, and physical and occupational therapy to help maximize independence. A team of specialists typically works together to create a personalized care plan for each affected individual.
Key symptoms:
Missing or shortened bones in the armsMissing or shortened bones in the legsAbsent or underdeveloped fingersAbsent or underdeveloped toesFused fingers or toesAbnormally shaped hands or feetLimb length differences between left and right sidesDifficulty gripping or holding objectsDifficulty walking or standingJoint stiffness or limited range of motionAbnormal bone shape visible on X-ray
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 with combined reduction defects of upper and lower limbs.
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Specialists
View all specialists →No specialists are currently listed for Dysostosis with combined reduction defects of upper and lower limbs.
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 with combined reduction defects of upper and lower limbs.
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 bones are affected in my child, and how severe are the differences?,Is genetic testing recommended, and what might it tell us about the cause?,What surgeries or procedures might be needed as my child grows?,When should we start physical and occupational therapy?,Would prosthetic devices be helpful, and when should we begin fitting them?,Are there any other organs or systems we should check for problems?,What is the chance that future children could be affected?
Common questions about Dysostosis with combined reduction defects of upper and lower limbs
What is Dysostosis with combined reduction defects of upper and lower limbs?
Dysostosis with combined reduction defects of upper and lower limbs is an extremely rare skeletal disorder that is present at birth. In this condition, parts of the bones in both the arms and legs do not form properly during development in the womb. The term "dysostosis" refers to abnormal bone formation, and "reduction defects" means that certain bones are partially or completely missing. This affects both the upper limbs (arms, hands, fingers) and lower limbs (legs, feet, toes), which distinguishes it from conditions where only one set of limbs is involved. Because the bones of the arms and
At what age does Dysostosis with combined reduction defects of upper and lower limbs typically begin?
Typical onset of Dysostosis with combined reduction defects of upper and lower limbs is neonatal. Age of onset can vary across affected individuals.