Overview
Rhizomelic dysplasia, Patterson-Lowry type (also called Patterson-Lowry rhizomelic dysplasia) is an extremely rare genetic bone disorder that primarily affects the growth and development of the skeleton. The term "rhizomelic" refers to shortening of the bones closest to the body, meaning the upper arms (humeri) and upper legs (femora) are disproportionately short compared to the rest of the limbs. This condition was first described by Patterson and Lowry and is distinct from other forms of rhizomelic skeletal dysplasia. People with this condition typically show short stature with particularly shortened upper limbs and thighs, along with other skeletal abnormalities that may include changes in the shape of the vertebrae and other bones. Facial features may also be affected. The condition is usually apparent at birth or in early childhood because of the noticeable limb shortening and growth delays. Because this condition is so rare, with only a handful of cases described in the medical literature, the treatment landscape is limited. There is currently no cure or disease-specific therapy. Management focuses on supportive care, including orthopedic interventions to address skeletal complications, physical therapy to maximize mobility and function, and regular monitoring of growth and development. A team of specialists is typically needed to provide comprehensive care.
Key symptoms:
Short statureShortened upper arms and upper legs (rhizomelic limb shortening)Disproportionate body proportionsAbnormal bone development visible on X-raysChanges in the shape of the spine bonesBroad or unusual facial featuresLimited range of motion in jointsDelayed motor milestonesBowing of the long bonesShort hands and feet
Clinical phenotype terms (17)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Rhizomelic dysplasia, Patterson-Lowry type.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rhizomelic dysplasia, Patterson-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 Rhizomelic dysplasia, Patterson-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 Rhizomelic dysplasia, Patterson-Lowry type.
Community
No community posts yet. Be the first to share your experience with Rhizomelic dysplasia, Patterson-Lowry type.
Start the conversation →Latest news about Rhizomelic dysplasia, Patterson-Lowry type
No recent news articles for Rhizomelic dysplasia, Patterson-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 skeletal abnormalities does my child have, and how might they change over time?,Should we pursue genetic testing, and what type of testing do you recommend?,What physical therapy or rehabilitation programs would be most helpful?,Are there any orthopedic surgeries that might improve my child's mobility or comfort?,How often should we schedule follow-up imaging and specialist visits?,Are there any complications we should watch for as my child grows?,Can you connect us with other families or support groups for rare skeletal conditions?
Common questions about Rhizomelic dysplasia, Patterson-Lowry type
What is Rhizomelic dysplasia, Patterson-Lowry type?
Rhizomelic dysplasia, Patterson-Lowry type (also called Patterson-Lowry rhizomelic dysplasia) is an extremely rare genetic bone disorder that primarily affects the growth and development of the skeleton. The term "rhizomelic" refers to shortening of the bones closest to the body, meaning the upper arms (humeri) and upper legs (femora) are disproportionately short compared to the rest of the limbs. This condition was first described by Patterson and Lowry and is distinct from other forms of rhizomelic skeletal dysplasia. People with this condition typically show short stature with particularly
How is Rhizomelic dysplasia, Patterson-Lowry type inherited?
Rhizomelic dysplasia, Patterson-Lowry type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rhizomelic dysplasia, Patterson-Lowry type typically begin?
Typical onset of Rhizomelic dysplasia, Patterson-Lowry type is neonatal. Age of onset can vary across affected individuals.