Overview
Larsen-like osseous dysplasia-short stature syndrome is an extremely rare genetic bone disorder that shares some features with classic Larsen syndrome but has its own distinct characteristics. The condition primarily affects how bones and joints develop, leading to noticeable short stature and skeletal abnormalities. People with this syndrome may have joint dislocations (where bones slip out of their normal position at a joint), unusual facial features, and abnormal development of the bones in the spine, limbs, and other parts of the skeleton. The term 'osseous dysplasia' refers to abnormal bone growth and formation. Key symptoms can include short stature that becomes apparent in childhood, loose or overly flexible joints, flat facial features, and various bone shape abnormalities visible on X-rays. Some individuals may also experience problems with their airways or breathing due to abnormalities in the cartilage that supports the windpipe. Because this condition is so rare, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms as they arise. This may include orthopedic interventions such as bracing or surgery for joint dislocations and skeletal deformities, physical therapy to strengthen muscles around unstable joints, and monitoring of growth and development. A team of specialists working together is usually needed to provide the best care for affected individuals.
Key symptoms:
Short statureJoint dislocations or loose jointsFlat facial appearanceAbnormal bone shape visible on X-raysSpinal abnormalitiesShort limbs or limb length differencesBroad or flat nose bridgeDelayed motor developmentAbnormal cartilage developmentCurved spine (scoliosis or kyphosis)Unusual hand or finger shapeBreathing difficulties in some cases
Clinical phenotype terms (21)— 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 Larsen-like osseous dysplasia-short stature syndrome.
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Specialists
View all specialists →No specialists are currently listed for Larsen-like osseous dysplasia-short stature syndrome.
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 Larsen-like osseous dysplasia-short stature syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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, and what type of testing do you recommend?,What physical activities are safe, and which should be avoided to protect the joints?,How often should we schedule follow-up X-rays or other imaging?,Are there any signs of spinal instability or airway problems we should watch for at home?,What therapies (physical therapy, occupational therapy) would benefit my child most right now?,Are there any clinical trials or research studies we should know about?
Common questions about Larsen-like osseous dysplasia-short stature syndrome
What is Larsen-like osseous dysplasia-short stature syndrome?
Larsen-like osseous dysplasia-short stature syndrome is an extremely rare genetic bone disorder that shares some features with classic Larsen syndrome but has its own distinct characteristics. The condition primarily affects how bones and joints develop, leading to noticeable short stature and skeletal abnormalities. People with this syndrome may have joint dislocations (where bones slip out of their normal position at a joint), unusual facial features, and abnormal development of the bones in the spine, limbs, and other parts of the skeleton. The term 'osseous dysplasia' refers to abnormal bo
How is Larsen-like osseous dysplasia-short stature syndrome inherited?
Larsen-like osseous dysplasia-short stature syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Larsen-like osseous dysplasia-short stature syndrome typically begin?
Typical onset of Larsen-like osseous dysplasia-short stature syndrome is neonatal. Age of onset can vary across affected individuals.