Overview
Spondylometaphyseal dysplasia, Golden type (also called SMD Golden type) is an extremely rare inherited bone disorder that affects the 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 vertebrae (bones of the spine) and abnormal growth areas near the ends of long bones. People with this condition typically show signs in early childhood, including short stature, bowing of the legs, and an abnormal curvature of the spine. X-rays often reveal flattened vertebrae (platyspondyly) and irregular, widened metaphyses in the long bones. Some individuals may also experience joint stiffness or limited range of motion. The condition was first described by Dr. Golden and is distinguished from other types of spondylometaphyseal dysplasia by its specific pattern of skeletal findings. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on monitoring growth, managing orthopedic complications such as leg bowing or spinal curvature, and providing supportive care including physical therapy. Surgical intervention may sometimes be needed for significant skeletal deformities. Regular follow-up with specialists familiar with skeletal dysplasias is important for optimizing quality of life.
Also known as:
Key symptoms:
Short statureBowing of the legsAbnormal curvature of the spineFlattened vertebrae visible on X-rayWidened or irregular ends of long bonesJoint stiffness or limited range of motionWaddling gait or difficulty walkingChest wall abnormalitiesShortened limbs relative to the trunkBack pain or discomfort
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 Spondylometaphyseal dysplasia, Golden type.
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Specialists
View all specialists →No specialists are currently listed for Spondylometaphyseal dysplasia, Golden 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, Golden 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 skeletal findings does my child have, and how severe are they?,Should we pursue genetic testing, and what type would be most helpful?,How often should we have X-rays or other imaging to monitor bone changes?,What orthopedic treatments or surgeries might be needed in the future?,What physical therapy program would be best for my child?,Are there any activities my child should avoid to protect their bones and joints?,Are there any clinical studies or registries we should consider joining?
Common questions about Spondylometaphyseal dysplasia, Golden type
What is Spondylometaphyseal dysplasia, Golden type?
Spondylometaphyseal dysplasia, Golden type (also called SMD Golden type) is an extremely rare inherited bone disorder that affects the 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 vertebrae (bones of the spine) and abnormal growth areas near the ends of long bones. People with this condition typically show signs in early childhood, including short stature, bowing of the legs, and an abnormal curvature of the spine. X-rays often reveal fl
How is Spondylometaphyseal dysplasia, Golden type inherited?
Spondylometaphyseal dysplasia, Golden type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondylometaphyseal dysplasia, Golden type typically begin?
Typical onset of Spondylometaphyseal dysplasia, Golden type is childhood. Age of onset can vary across affected individuals.