Overview
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare genetic skeletal disorder that affects the growth and development of bones, particularly the spine (spondylo-) and the ends of long bones called epiphyses. This condition belongs to a group of disorders known as spondyloepiphyseal dysplasias (SEDs), which are characterized by abnormal bone and cartilage development. The Reardon type is specifically associated with short stature, skeletal abnormalities, and distinctive changes visible on X-rays of the spine and joints. People with this condition typically show signs in early life, including short trunk, abnormalities of the vertebrae (the bones of the spine), and changes in the hip joints and other large joints. The limbs may appear relatively normal in proportion compared to the shortened trunk. Some individuals may also experience joint pain or stiffness as they grow older, and there may be associated features such as hearing loss, which has been described in some cases of this specific subtype. There is currently no cure for spondyloepiphyseal dysplasia, Reardon type. Treatment focuses on managing symptoms and preventing complications. This may include orthopedic interventions for skeletal problems, physical therapy to maintain mobility and strength, pain management, and monitoring for complications such as spinal cord compression. A team of specialists typically works together to provide comprehensive care for affected individuals.
Key symptoms:
Short stature with a short trunkAbnormal curvature of the spineFlattened vertebrae visible on X-rayUnderdeveloped hip jointsJoint stiffness or limited range of motionJoint pain, especially in the hips and kneesWaddling gait or difficulty walkingHearing loss (sensorineural)Barrel-shaped chestDelayed bone development at the ends of long bonesShort neck
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 Spondyloepiphyseal dysplasia, Reardon type.
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Specialists
View all specialists →No specialists are currently listed for Spondyloepiphyseal dysplasia, Reardon 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, Reardon 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 genetic testing should be done to confirm the diagnosis?,How often should my child have skeletal X-rays and orthopedic check-ups?,Should we screen for hearing loss, and how often?,What signs of spinal cord compression should I watch for?,Are there physical activities that should be avoided to protect the joints and spine?,What therapies or interventions can help maintain mobility and reduce pain?,Is genetic counseling recommended for our family regarding future pregnancies?
Common questions about Spondyloepiphyseal dysplasia, Reardon type
What is Spondyloepiphyseal dysplasia, Reardon type?
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare genetic skeletal disorder that affects the growth and development of bones, particularly the spine (spondylo-) and the ends of long bones called epiphyses. This condition belongs to a group of disorders known as spondyloepiphyseal dysplasias (SEDs), which are characterized by abnormal bone and cartilage development. The Reardon type is specifically associated with short stature, skeletal abnormalities, and distinctive changes visible on X-rays of the spine and joints. People with this condition typically show signs in early life,
How is Spondyloepiphyseal dysplasia, Reardon type inherited?
Spondyloepiphyseal dysplasia, Reardon type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepiphyseal dysplasia, Reardon type typically begin?
Typical onset of Spondyloepiphyseal dysplasia, Reardon type is childhood. Age of onset can vary across affected individuals.