Overview
Spondyloepimetaphyseal dysplasia, Bieganski type (also called SEMD Bieganski type) is an extremely rare inherited bone disorder that affects the growth and development of the skeleton. The name describes which parts of the bones are affected: the spine (spondylo-), the ends of long bones (epi-), and the areas near the growth plates (metaphyseal). This condition was first described by Dr. Bieganski and colleagues, and only a handful of cases have been reported in the medical literature. People with this condition typically have short stature that becomes noticeable in early childhood. The bones of the spine, arms, and legs do not develop normally, leading to skeletal abnormalities that can be seen on X-rays. Common features include short limbs, a short trunk, bowed legs, and abnormalities of the vertebrae (bones of the spine). Some affected individuals may also have distinctive facial features and intellectual disability. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing symptoms as they arise, which may include orthopedic interventions for bone and joint problems, physical therapy to maintain mobility, and supportive care. Regular monitoring by a team of specialists is important to manage complications and optimize quality of life.
Key symptoms:
Short statureShort arms and legsShort trunkBowed legsAbnormal curvature of the spineFlattened vertebrae (bones of the spine)Irregular growth plates visible on X-rayWaddling gait or difficulty walkingJoint stiffness or limited range of motionDistinctive facial featuresIntellectual disability in some casesDelayed motor development
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 Spondyloepimetaphyseal dysplasia, Bieganski type.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Spondyloepimetaphyseal dysplasia, Bieganski 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, Bieganski 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 abnormalities does my child have, and how might they change over time?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What orthopedic treatments or surgeries might be needed in the future?,How often should we schedule follow-up X-rays and specialist visits?,Are there physical therapy programs that specialize in skeletal dysplasias?,What signs of complications should I watch for at home?,Are there any research studies or registries we can participate in?
Common questions about Spondyloepimetaphyseal dysplasia, Bieganski type
What is Spondyloepimetaphyseal dysplasia, Bieganski type?
Spondyloepimetaphyseal dysplasia, Bieganski type (also called SEMD Bieganski type) is an extremely rare inherited bone disorder that affects the growth and development of the skeleton. The name describes which parts of the bones are affected: the spine (spondylo-), the ends of long bones (epi-), and the areas near the growth plates (metaphyseal). This condition was first described by Dr. Bieganski and colleagues, and only a handful of cases have been reported in the medical literature. People with this condition typically have short stature that becomes noticeable in early childhood. The bone
How is Spondyloepimetaphyseal dysplasia, Bieganski type inherited?
Spondyloepimetaphyseal dysplasia, Bieganski type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepimetaphyseal dysplasia, Bieganski type typically begin?
Typical onset of Spondyloepimetaphyseal dysplasia, Bieganski type is childhood. Age of onset can vary across affected individuals.