Overview
Spondyloepimetaphyseal dysplasia, Geneviève type (also called SEMD Geneviève type) is an extremely rare genetic bone disorder that affects the growth and development of the spine (spondylo-), the ends of long bones (epiphyseal), and the areas near the growth plates of bones (metaphyseal). This condition belongs to a group of skeletal disorders known as spondyloepimetaphyseal dysplasias. People with this condition typically have short stature, abnormalities of the spine such as flattened vertebrae (platyspondyly), and changes in the shape of the long bones in the arms and legs. Additional features may include joint problems, bowing of the limbs, and distinctive facial features. Because this is such a rare condition, with very few cases described in the medical literature, the full range of symptoms and their severity is not completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include orthopedic interventions, physical therapy, and monitoring for complications. A team of specialists typically works together to provide the best care for affected individuals. The condition was first described by Dr. Geneviève and colleagues, which is how it received its name.
Also known as:
Key symptoms:
Short statureFlattened bones of the spineAbnormal shape of the ends of long bonesBowing of the legs or armsJoint stiffness or limited range of motionShort limbs compared to the trunkWaddling gait or difficulty walkingDistinctive facial featuresDelayed motor milestonesAbnormal curvature of the spine
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Spondyloepimetaphyseal dysplasia, Geneviève type.
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Specialists
View all specialists →No specialists are currently listed for Spondyloepimetaphyseal dysplasia, Geneviève 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 Spondyloepimetaphyseal dysplasia, Geneviève 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 changes does my child have, and how might they progress over time?,Is genetic testing available to confirm the exact diagnosis?,What physical therapy or orthopedic treatments would be most helpful right now?,Are there any complications I should watch for as my child grows?,How often should we have follow-up X-rays or specialist visits?,Are there any clinical trials or research studies we could participate in?,What accommodations might my child need at school or in daily life?
Common questions about Spondyloepimetaphyseal dysplasia, Geneviève type
What is Spondyloepimetaphyseal dysplasia, Geneviève type?
Spondyloepimetaphyseal dysplasia, Geneviève type (also called SEMD Geneviève type) is an extremely rare genetic bone disorder that affects the growth and development of the spine (spondylo-), the ends of long bones (epiphyseal), and the areas near the growth plates of bones (metaphyseal). This condition belongs to a group of skeletal disorders known as spondyloepimetaphyseal dysplasias. People with this condition typically have short stature, abnormalities of the spine such as flattened vertebrae (platyspondyly), and changes in the shape of the long bones in the arms and legs. Additional featu
How is Spondyloepimetaphyseal dysplasia, Geneviève type inherited?
Spondyloepimetaphyseal dysplasia, Geneviève type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepimetaphyseal dysplasia, Geneviève type typically begin?
Typical onset of Spondyloepimetaphyseal dysplasia, Geneviève type is neonatal. Age of onset can vary across affected individuals.