Overview
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome is an extremely rare skeletal condition that primarily affects bone development. The hallmark feature of this syndrome is a noticeable outward bowing (lateral bowing) of the tibia, which is the larger bone in the lower leg. People with this condition are also shorter than average and may have mildly protruding shoulder blades (called winged scapula) and subtle differences in facial features. The bowing of the legs can affect how a person walks and may cause discomfort or difficulty with mobility. Because this syndrome is so rare, it has been described in only a very small number of individuals, and much about it is still being studied. The condition appears to be present from birth or early childhood, as the skeletal abnormalities become apparent as the child grows. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and may include orthopedic interventions such as bracing or surgery to correct the leg bowing, physical therapy to improve strength and mobility, and monitoring growth. A team of specialists is typically needed to provide comprehensive care. The mild facial differences associated with this condition generally do not cause functional problems but may be part of the diagnostic picture.
Key symptoms:
Outward bowing of the shin bones (tibiae)Short stature or being shorter than expectedMildly protruding or winged shoulder bladesSubtle differences in facial featuresDifficulty walking or abnormal gaitLeg pain or discomfortPossible leg length differencesReduced mobility or physical endurance
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism 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 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism 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.How severe is the tibial bowing, and is it likely to get worse as my child grows?,Will my child need surgery to correct the leg bowing, and if so, when is the best time?,Should we pursue genetic testing to look for an underlying cause?,What physical activities are safe, and are there any that should be avoided?,How will this condition affect my child's final adult height?,What therapies or supports can help improve mobility and quality of life?,Is there a risk that future children could have the same condition?
Common questions about Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
What is Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome?
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome is an extremely rare skeletal condition that primarily affects bone development. The hallmark feature of this syndrome is a noticeable outward bowing (lateral bowing) of the tibia, which is the larger bone in the lower leg. People with this condition are also shorter than average and may have mildly protruding shoulder blades (called winged scapula) and subtle differences in facial features. The bowing of the legs can affect how a person walks and may cause discomfort or difficulty with mobility. Be
How is Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome inherited?
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome typically begin?
Typical onset of Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.