Overview
OSLAM syndrome is an extremely rare condition whose name stands for Osteosarcoma, Limb Anomalies, and erythroid Macrocytosis. This syndrome involves a combination of bone cancer (osteosarcoma), abnormalities in the limbs, and unusually large red blood cells (macrocytosis). The ICD-10 code C41.9 reflects the bone tumor component of this condition. Osteosarcoma is a type of cancer that starts in the bones, most commonly in the long bones of the arms and legs. In OSLAM syndrome, this bone cancer occurs alongside birth defects affecting the limbs, which may include shortened or malformed bones. The macrocytosis component means that red blood cells are larger than normal, which can sometimes be associated with anemia or other blood-related problems. Because OSLAM syndrome is extraordinarily rare, with very few cases described in the medical literature, there is limited information about its full range of symptoms, underlying genetic cause, and optimal treatment. Management typically focuses on treating the osteosarcoma with surgery and chemotherapy, addressing limb abnormalities through orthopedic care, and monitoring blood counts. Patients benefit from a multidisciplinary team approach involving oncologists, orthopedic surgeons, hematologists, and geneticists.
Key symptoms:
Bone cancer (osteosarcoma), often in the long bonesLimb abnormalities present from birthShortened or malformed arms or legsLarger than normal red blood cells (macrocytosis)Bone pain or swellingPossible anemia or fatigue from blood cell changesPossible fractures in affected bonesReduced range of motion in affected limbs
Clinical phenotype terms (7)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OSLAM syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OSLAM syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for OSLAM 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 OSLAM 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
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 stage is the osteosarcoma, and what is the recommended treatment plan?,How will the limb abnormalities be managed, and will surgery be needed?,How often should blood counts be checked to monitor the macrocytosis?,Are there any genetic tests that could help us understand the cause of this syndrome?,What side effects should we watch for during chemotherapy?,Is there a clinical trial or research study that might be relevant for our child?,What support services are available for our family, including physical therapy and counseling?
Common questions about OSLAM syndrome
What is OSLAM syndrome?
OSLAM syndrome is an extremely rare condition whose name stands for Osteosarcoma, Limb Anomalies, and erythroid Macrocytosis. This syndrome involves a combination of bone cancer (osteosarcoma), abnormalities in the limbs, and unusually large red blood cells (macrocytosis). The ICD-10 code C41.9 reflects the bone tumor component of this condition. Osteosarcoma is a type of cancer that starts in the bones, most commonly in the long bones of the arms and legs. In OSLAM syndrome, this bone cancer occurs alongside birth defects affecting the limbs, which may include shortened or malformed bones. T
At what age does OSLAM syndrome typically begin?
Typical onset of OSLAM syndrome is childhood. Age of onset can vary across affected individuals.