Overview
Multiple epiphyseal dysplasia, Lowry type (also called Lowry-Wood syndrome or MED Lowry type) is an extremely rare inherited skeletal disorder that affects the growth centers (epiphyses) at the ends of bones, particularly in the arms and legs. This condition belongs to a group of bone disorders known as skeletal dysplasias. People with this condition typically experience short stature, joint problems, and abnormal development of the ends of their long bones. The condition may also be associated with small head size (microcephaly), intellectual disability, and other features that distinguish it from other forms of multiple epiphyseal dysplasia. The disease usually becomes apparent during childhood when growth delays and skeletal abnormalities are noticed. Children may have difficulty walking, joint stiffness, and pain. X-rays often show irregular or flattened epiphyses, which are the growing parts of bones near the joints. Over time, early-onset arthritis can develop in affected joints. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include physical therapy, pain management, orthopedic interventions, and supportive care for any associated developmental or neurological concerns. Because this condition is so rare, much of the medical understanding comes from a very small number of reported cases, and management is often individualized based on each patient's specific needs.
Also known as:
Key symptoms:
Short statureJoint pain and stiffnessAbnormal bone development at the ends of long bonesSmall head size (microcephaly)Intellectual disability or developmental delayWaddling gait or difficulty walkingEarly-onset arthritisLimited range of motion in jointsFlat or irregular appearance of bone growth plates on X-rayShort limbs relative to the bodyDelayed motor milestonesCongenital heart defects (in some cases)
Clinical phenotype terms (20)— hover any for plain English
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 Multiple epiphyseal dysplasia, Lowry type.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Multiple epiphyseal dysplasia, Lowry type at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Multiple epiphyseal dysplasia, Lowry 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, Lowry type.
Community
No community posts yet. Be the first to share your experience with Multiple epiphyseal dysplasia, Lowry type.
Start the conversation →Latest news about Multiple epiphyseal dysplasia, Lowry type
No recent news articles for Multiple epiphyseal dysplasia, Lowry type.
Follow this condition to be notified when news becomes available.
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 skeletal dysplasia does my child have, and how was the diagnosis confirmed?,Should we pursue genetic testing, and what would the results mean for our family?,What specialists should be part of our care team?,What can we do to protect the joints and manage pain as my child grows?,Are there any signs or symptoms we should watch for that would need urgent attention?,What developmental or educational support services would you recommend?,Are there any research studies or registries we should consider joining?
Common questions about Multiple epiphyseal dysplasia, Lowry type
What is Multiple epiphyseal dysplasia, Lowry type?
Multiple epiphyseal dysplasia, Lowry type (also called Lowry-Wood syndrome or MED Lowry type) is an extremely rare inherited skeletal disorder that affects the growth centers (epiphyses) at the ends of bones, particularly in the arms and legs. This condition belongs to a group of bone disorders known as skeletal dysplasias. People with this condition typically experience short stature, joint problems, and abnormal development of the ends of their long bones. The condition may also be associated with small head size (microcephaly), intellectual disability, and other features that distinguish it
How is Multiple epiphyseal dysplasia, Lowry type inherited?
Multiple epiphyseal dysplasia, Lowry type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple epiphyseal dysplasia, Lowry type typically begin?
Typical onset of Multiple epiphyseal dysplasia, Lowry type is childhood. Age of onset can vary across affected individuals.