Overview
Rhizomelic syndrome, Urbach type, is an extremely rare genetic condition that primarily affects bone and limb development. 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 described by Urbach and falls under the broader category of skeletal dysplasias — disorders that affect how bones and cartilage grow and develop. Individuals with this syndrome typically present at birth or in early infancy with noticeable shortening of the upper limbs and thighs, along with other possible skeletal abnormalities. Additional features may include facial differences, joint limitations, and in some cases, intellectual disability or developmental delays. Because this condition is so rare, with very few cases reported in the medical literature, the full range of symptoms and their severity is not completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include orthopedic interventions, physical therapy, and supportive care to help maximize mobility and quality of life. A team of specialists is usually needed to address the various aspects of the syndrome. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Key symptoms:
Shortened upper arms and upper legs (rhizomelic limb shortening)Short statureFacial differences or unusual facial featuresLimited joint movement or stiff jointsAbnormal bone development visible on X-raysPossible intellectual disability or developmental delaysPossible spine abnormalitiesDisproportionate body build
Clinical phenotype terms (26)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Rhizomelic syndrome, Urbach type.
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Specialists
View all specialists →No specialists are currently listed for Rhizomelic syndrome, Urbach 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 syndrome, Urbach type.
Community
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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.What specific skeletal abnormalities does my child have, and how might they change over time?,Should we pursue genetic testing such as whole exome sequencing to look for a specific cause?,What therapies (physical, occupational, developmental) should we start now?,Are there any complications we should watch for as my child grows?,How often should we schedule follow-up visits and imaging studies?,Is genetic counseling available to help us understand the chance of this happening in future pregnancies?,Are there any research studies or registries we can participate in?
Common questions about Rhizomelic syndrome, Urbach type
What is Rhizomelic syndrome, Urbach type?
Rhizomelic syndrome, Urbach type, is an extremely rare genetic condition that primarily affects bone and limb development. 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 described by Urbach and falls under the broader category of skeletal dysplasias — disorders that affect how bones and cartilage grow and develop. Individuals with this syndrome typically present at birth or in early infancy with noticeable shortening of the up
How is Rhizomelic syndrome, Urbach type inherited?
Rhizomelic syndrome, Urbach type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rhizomelic syndrome, Urbach type typically begin?
Typical onset of Rhizomelic syndrome, Urbach type is neonatal. Age of onset can vary across affected individuals.