Overview
Metaphyseal chondrodysplasia, Rosenberg type, is an extremely rare inherited bone disorder that affects how bones grow, particularly at the metaphyses — the wide portions near the ends of long bones where growth occurs during childhood. This condition belongs to a group of skeletal disorders called metaphyseal chondrodysplasias, which share the common feature of abnormal cartilage-to-bone development at these growth regions. Children with this condition typically show short stature and skeletal abnormalities that become apparent in early childhood. The metaphyses of the long bones appear widened and irregular on X-rays. Affected individuals may experience bowed legs, waddling gait, and joint stiffness. Intelligence is typically normal, and the condition primarily affects the skeleton. Because this is an extremely rare condition with very few reported cases in the medical literature, the full spectrum of symptoms and the best approaches to management are not completely understood. Treatment is generally supportive and symptomatic, focusing on orthopedic care to manage bone and joint problems. There is currently no cure or disease-modifying therapy available. Regular monitoring by specialists familiar with skeletal dysplasias is important to track growth and address complications as they arise.
Also known as:
Key symptoms:
Short statureBowed legsWidened or irregular ends of long bonesWaddling gaitJoint stiffnessLimb shorteningDelayed growthAbnormal bone development near growth plates
Clinical phenotype terms (15)— hover any for plain English
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 Metaphyseal chondrodysplasia, Rosenberg type.
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Specialists
View all specialists →No specialists are currently listed for Metaphyseal chondrodysplasia, Rosenberg type.
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 Metaphyseal chondrodysplasia, Rosenberg type.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.What type of metaphyseal chondrodysplasia does my child have, and how certain is the diagnosis?,Should we pursue genetic testing, and what might it tell us?,How often should my child have X-rays and growth monitoring?,Are there orthopedic treatments that could help with leg bowing or joint problems?,What physical activities are safe, and are there any we should avoid?,What is the expected adult height for my child?,Are there any clinical studies or registries we should consider joining?
Common questions about Metaphyseal chondrodysplasia, Rosenberg type
What is Metaphyseal chondrodysplasia, Rosenberg type?
Metaphyseal chondrodysplasia, Rosenberg type, is an extremely rare inherited bone disorder that affects how bones grow, particularly at the metaphyses — the wide portions near the ends of long bones where growth occurs during childhood. This condition belongs to a group of skeletal disorders called metaphyseal chondrodysplasias, which share the common feature of abnormal cartilage-to-bone development at these growth regions. Children with this condition typically show short stature and skeletal abnormalities that become apparent in early childhood. The metaphyses of the long bones appear wide
How is Metaphyseal chondrodysplasia, Rosenberg type inherited?
Metaphyseal chondrodysplasia, Rosenberg type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Metaphyseal chondrodysplasia, Rosenberg type typically begin?
Typical onset of Metaphyseal chondrodysplasia, Rosenberg type is childhood. Age of onset can vary across affected individuals.