Overview
Spondyloepiphyseal dysplasia, MacDermot type (also called SED MacDermot type) is an extremely rare inherited bone disorder that belongs to a group of conditions known as skeletal dysplasias. These are conditions where the bones and cartilage do not develop properly. In this specific type, the spine (spondylo-) and the ends of the long bones near the joints (epiphyses) are primarily affected, leading to abnormal bone growth and short stature. People with this condition typically show signs in early childhood, including disproportionate short stature, a short trunk, and joint problems. The face may have distinctive features, and there can be abnormalities in the shape of the vertebrae (the bones of the spine) visible on X-rays. Some individuals may also experience joint stiffness or pain, waddling gait, and limitations in movement. Because this condition is so rare, with very few cases described in the medical literature, the full range of symptoms and the best approaches to treatment are not completely understood. Currently, there is no cure for this condition. Treatment is supportive and focuses on managing symptoms, which may include orthopedic interventions, physical therapy, and pain management. Regular monitoring by a team of specialists is important to address complications as they arise.
Also known as:
Key symptoms:
Short stature with a short trunkAbnormal shape of the spinal bones (platyspondyly)Underdeveloped ends of the long bones near jointsJoint stiffness or limited range of motionWaddling gait or difficulty walkingFacial features that may appear flattenedMild intellectual disability in some casesBarrel-shaped chestShort neckHip joint problemsBack pain or spinal curvature
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Spondyloepiphyseal dysplasia, MacDermot type.
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Specialists
View all specialists →No specialists are currently listed for Spondyloepiphyseal dysplasia, MacDermot 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 Spondyloepiphyseal dysplasia, MacDermot 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 type of spondyloepiphyseal dysplasia does my child have, and how was this determined?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What complications should I watch for, especially related to the spine?,How often should my child have X-rays or other imaging studies?,What physical activities are safe, and which should be avoided?,Are there any clinical trials or research studies we could participate in?,What support services are available for school and daily living?
Common questions about Spondyloepiphyseal dysplasia, MacDermot type
What is Spondyloepiphyseal dysplasia, MacDermot type?
Spondyloepiphyseal dysplasia, MacDermot type (also called SED MacDermot type) is an extremely rare inherited bone disorder that belongs to a group of conditions known as skeletal dysplasias. These are conditions where the bones and cartilage do not develop properly. In this specific type, the spine (spondylo-) and the ends of the long bones near the joints (epiphyses) are primarily affected, leading to abnormal bone growth and short stature. People with this condition typically show signs in early childhood, including disproportionate short stature, a short trunk, and joint problems. The face
How is Spondyloepiphyseal dysplasia, MacDermot type inherited?
Spondyloepiphyseal dysplasia, MacDermot type follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepiphyseal dysplasia, MacDermot type typically begin?
Typical onset of Spondyloepiphyseal dysplasia, MacDermot type is childhood. Age of onset can vary across affected individuals.