Overview
Metaphyseal chondrodysplasia, Kaitila 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. This condition is also sometimes referred to as metaphyseal dysplasia, Kaitila type. It belongs to a group of skeletal disorders called metaphyseal chondrodysplasias, where the cartilage-to-bone conversion process at the growth plates does not work properly. People with this condition typically show short stature and skeletal abnormalities that become apparent during childhood. The metaphyses of the long bones appear widened and irregular on X-rays. Affected individuals may have bowed legs, waddling gait, and joint problems. The severity can vary, but the condition primarily impacts the skeletal system. Because this is such a rare condition, there is no specific cure or targeted therapy available. Treatment is mainly supportive and focuses on managing symptoms. This may include orthopedic interventions for bone deformities, physical therapy to maintain mobility, and regular monitoring of growth and skeletal development. Pain management may also be necessary. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Key symptoms:
Short statureBowed legsWidened ends of long bonesWaddling gaitJoint stiffness or limited range of motionIrregular growth plates visible on X-rayMild to moderate limb shorteningBone painDifficulty with physical activities
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, Kaitila type.
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Specialists
View all specialists →No specialists are currently listed for Metaphyseal chondrodysplasia, Kaitila 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, Kaitila type.
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.How severe is my child's skeletal involvement based on current X-rays?,Will my child need surgery to correct bone deformities?,What is the expected adult height for my child?,Should we pursue genetic testing to confirm the diagnosis?,What physical activities are safe, and which should be avoided?,How often should we schedule follow-up X-rays and orthopedic visits?,Are there any clinical trials or research studies we could participate in?
Common questions about Metaphyseal chondrodysplasia, Kaitila type
What is Metaphyseal chondrodysplasia, Kaitila type?
Metaphyseal chondrodysplasia, Kaitila 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. This condition is also sometimes referred to as metaphyseal dysplasia, Kaitila type. It belongs to a group of skeletal disorders called metaphyseal chondrodysplasias, where the cartilage-to-bone conversion process at the growth plates does not work properly. People with this condition typically show short stature and skeletal abnormalities that become apparent during childhood. The metaphyses of the
How is Metaphyseal chondrodysplasia, Kaitila type inherited?
Metaphyseal chondrodysplasia, Kaitila type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Metaphyseal chondrodysplasia, Kaitila type typically begin?
Typical onset of Metaphyseal chondrodysplasia, Kaitila type is childhood. Age of onset can vary across affected individuals.