Overview
Spondylometaphyseal dysplasia, Czarny-Ratajczak type (also called SMD Czarny-Ratajczak type) is an extremely rare genetic bone disorder that affects the growth and development of the spine and the ends of long bones (called metaphyses). This condition belongs to a group of skeletal disorders known as spondylometaphyseal dysplasias, which share features of abnormal vertebral bodies and metaphyseal irregularities. People with this condition typically experience short stature that becomes noticeable during childhood. The spine may show flattened vertebral bodies (platyspondyly), and the long bones of the arms and legs may have widened or irregular ends. Joint problems, including stiffness or limited range of motion, can develop over time. Some individuals may also experience bowing of the legs and a waddling gait. Because this is such a rare condition, treatment is mainly supportive and focused on managing symptoms. Orthopedic care, physical therapy, and pain management are the main approaches. There is currently no cure or disease-specific therapy. Regular monitoring by a team of specialists is important to track bone growth and address complications as they arise.
Key symptoms:
Short statureFlattened vertebral bodies in the spineIrregular or widened ends of long bonesBowing of the legsJoint stiffness or limited range of motionWaddling gaitBack painAbnormal curvature of the spineDelayed growth in childhoodLimb shorteningHip joint problems
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Spondylometaphyseal dysplasia, Czarny-Ratajczak type.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Spondylometaphyseal dysplasia, Czarny-Ratajczak 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 Spondylometaphyseal dysplasia, Czarny-Ratajczak 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.What specific genetic mutation was found, and what does it mean for my child's prognosis?,How often should we have skeletal X-rays or other imaging done?,What physical therapy exercises are most helpful for maintaining mobility?,Are there any activities or sports my child should avoid to protect their joints and spine?,When should we consider surgical options for leg bowing or spinal problems?,Is there any ongoing research or clinical trials for this condition?,Should other family members be tested for this genetic change?
Common questions about Spondylometaphyseal dysplasia, Czarny-Ratajczak type
What is Spondylometaphyseal dysplasia, Czarny-Ratajczak type?
Spondylometaphyseal dysplasia, Czarny-Ratajczak type (also called SMD Czarny-Ratajczak type) is an extremely rare genetic bone disorder that affects the growth and development of the spine and the ends of long bones (called metaphyses). This condition belongs to a group of skeletal disorders known as spondylometaphyseal dysplasias, which share features of abnormal vertebral bodies and metaphyseal irregularities. People with this condition typically experience short stature that becomes noticeable during childhood. The spine may show flattened vertebral bodies (platyspondyly), and the long bon
How is Spondylometaphyseal dysplasia, Czarny-Ratajczak type inherited?
Spondylometaphyseal dysplasia, Czarny-Ratajczak type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondylometaphyseal dysplasia, Czarny-Ratajczak type typically begin?
Typical onset of Spondylometaphyseal dysplasia, Czarny-Ratajczak type is childhood. Age of onset can vary across affected individuals.