Overview
Multiple epiphyseal dysplasia, Beighton type is a rare inherited skeletal disorder that primarily affects the growing ends (epiphyses) of bones, especially in the hips, knees, and ankles. This condition is also sometimes referred to as MED Beighton type. It belongs to a group of bone disorders known as multiple epiphyseal dysplasias (MED), which share the common feature of abnormal development of the cartilage that forms the ends of long bones. People with this condition typically develop joint pain and stiffness during childhood, particularly in the hips and knees. They may have a waddling gait and mild short stature compared to unaffected family members. The hands and fingers may also be affected, sometimes appearing short or stubby. Over time, early-onset osteoarthritis (wear and tear of the joints) is a significant concern, often developing in young adulthood rather than later in life as is typical in the general population. There is currently no cure for this condition. Treatment focuses on managing symptoms, reducing joint stress, and maintaining mobility. Physical therapy, pain management, weight control, and in some cases joint replacement surgery later in life are the main approaches. Early diagnosis and appropriate management can help preserve joint function and quality of life.
Also known as:
Key symptoms:
Joint pain, especially in hips and kneesJoint stiffnessWaddling walkMild short statureShort fingers or handsEarly-onset arthritis in the jointsDifficulty running or climbing stairsLimited range of motion in jointsFatigue with physical activityKnock knees or bowed legsBack pain in some casesIrregular shape of bones seen on X-rays
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 Multiple epiphyseal dysplasia, Beighton type.
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Specialists
View all specialists →No specialists are currently listed for Multiple epiphyseal dysplasia, Beighton 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 Multiple epiphyseal dysplasia, Beighton type.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.How severe is my child's condition based on the X-rays and genetic testing?,What types of physical activities are safe, and which should be avoided?,At what age should we start watching for signs of arthritis?,Should other family members be tested for this condition?,What pain management options are appropriate for a child or young adult?,When might joint replacement surgery become necessary?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Multiple epiphyseal dysplasia, Beighton type
What is Multiple epiphyseal dysplasia, Beighton type?
Multiple epiphyseal dysplasia, Beighton type is a rare inherited skeletal disorder that primarily affects the growing ends (epiphyses) of bones, especially in the hips, knees, and ankles. This condition is also sometimes referred to as MED Beighton type. It belongs to a group of bone disorders known as multiple epiphyseal dysplasias (MED), which share the common feature of abnormal development of the cartilage that forms the ends of long bones. People with this condition typically develop joint pain and stiffness during childhood, particularly in the hips and knees. They may have a waddling g
How is Multiple epiphyseal dysplasia, Beighton type inherited?
Multiple epiphyseal dysplasia, Beighton type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple epiphyseal dysplasia, Beighton type typically begin?
Typical onset of Multiple epiphyseal dysplasia, Beighton type is childhood. Age of onset can vary across affected individuals.