Overview
Spondyloepiphyseal dysplasia with metatarsal shortening (SED with metatarsal shortening) is an extremely rare genetic skeletal disorder that affects bone growth and development. It belongs to a group of conditions called spondyloepiphyseal dysplasias, which primarily affect the bones of the spine (spondylo-) and the ends of long bones (epiphyseal). In this particular form, there is also notable shortening of the metatarsal bones, which are the long bones in the feet that connect the ankle to the toes. People with this condition typically have short stature, abnormalities of the spine such as flattened vertebrae (platyspondyly), and changes in the shape of the hip joints and other large joints. The shortening of the metatarsals can affect the appearance and function of the feet. Joint pain and stiffness may develop over time, and some individuals may experience early-onset arthritis. The severity of symptoms can vary from person to person. Because this is such a rare condition, treatment is mainly supportive and focused on managing symptoms. There is no cure, but orthopedic care, physical therapy, and pain management can help improve quality of life. Regular monitoring by specialists is important to track bone and joint changes over time and to address complications as they arise.
Key symptoms:
Short statureShortened bones in the feet (metatarsals)Flattened spinal vertebraeJoint stiffnessJoint painAbnormal hip joint developmentWaddling gait or difficulty walkingEarly-onset arthritisShort hands or fingersMild curvature of the spineLimited range of motion in jointsFlat feet or foot deformities
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 Spondyloepiphyseal dysplasia with metatarsal shortening.
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Specialists
View all specialists →No specialists are currently listed for Spondyloepiphyseal dysplasia with metatarsal shortening.
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 Spondyloepiphyseal dysplasia with metatarsal shortening.
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 bones and joints are affected in my case, and how severe are the changes?,Is genetic testing available to confirm the diagnosis, and should my family members be tested?,What physical activities are safe, and which ones should I avoid to protect my joints?,How often should I have X-rays or other imaging to monitor for changes?,What pain management options are available if joint pain becomes a problem?,Are there any surgical options that might help with my specific bone or joint issues?,Can you refer me to a center that specializes in skeletal dysplasias?
Common questions about Spondyloepiphyseal dysplasia with metatarsal shortening
What is Spondyloepiphyseal dysplasia with metatarsal shortening?
Spondyloepiphyseal dysplasia with metatarsal shortening (SED with metatarsal shortening) is an extremely rare genetic skeletal disorder that affects bone growth and development. It belongs to a group of conditions called spondyloepiphyseal dysplasias, which primarily affect the bones of the spine (spondylo-) and the ends of long bones (epiphyseal). In this particular form, there is also notable shortening of the metatarsal bones, which are the long bones in the feet that connect the ankle to the toes. People with this condition typically have short stature, abnormalities of the spine such as
How is Spondyloepiphyseal dysplasia with metatarsal shortening inherited?
Spondyloepiphyseal dysplasia with metatarsal shortening follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepiphyseal dysplasia with metatarsal shortening typically begin?
Typical onset of Spondyloepiphyseal dysplasia with metatarsal shortening is childhood. Age of onset can vary across affected individuals.