Overview
FGFR2-related bent bone dysplasia is an extremely rare and severe skeletal disorder that affects bone development before birth. It is also known as bent bone dysplasia syndrome or FGFR2-related bent bone dysplasia syndrome. This condition is caused by specific mutations in the FGFR2 gene, which plays an important role in how bones grow and form during fetal development. Babies with this condition are typically identified before or at birth because of distinctive features including bent or bowed long bones (the bones in the arms and legs), underdeveloped bones in the skull (cranial hypomineralization), and unusual facial features such as a flat midface and low-set ears. The ribcage may also be small or abnormally shaped, which can cause serious breathing difficulties. Other features may include prematurely fused skull bones (craniosynostosis) and overall poor bone mineralization. Unfortunately, this condition is very severe, and most affected babies do not survive the newborn period due to breathing problems related to the small chest and underdeveloped lungs. There is currently no cure or specific treatment for this condition. Care is focused on comfort and supportive measures. Genetic counseling is important for affected families to understand the risk of recurrence in future pregnancies.
Also known as:
Key symptoms:
Bent or bowed long bones in the arms and legsPoorly mineralized skull bonesSmall or narrow chestFlat midfaceLow-set earsPremature fusion of skull bones (craniosynostosis)Underdeveloped lungsSevere breathing difficulties at birthShort limbsPoor overall bone mineralizationAbnormal rib shapeUnusual head shapePrenatal growth restriction
Clinical phenotype terms (27)— 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 FGFR2-related bent bone dysplasia.
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Specialists
View all specialists →No specialists are currently listed for FGFR2-related bent bone dysplasia.
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 FGFR2-related bent bone dysplasia.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
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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 certain is the diagnosis based on the current imaging or genetic test results?,What can we expect during the pregnancy and at delivery?,What comfort care and palliative care options are available for our baby?,Is genetic counseling available to help us understand the risk for future pregnancies?,Was this caused by a new mutation, or could other family members carry it?,What emotional and psychological support services are available for our family?,Can you connect us with other families who have experienced a similar diagnosis?
Common questions about FGFR2-related bent bone dysplasia
What is FGFR2-related bent bone dysplasia?
FGFR2-related bent bone dysplasia is an extremely rare and severe skeletal disorder that affects bone development before birth. It is also known as bent bone dysplasia syndrome or FGFR2-related bent bone dysplasia syndrome. This condition is caused by specific mutations in the FGFR2 gene, which plays an important role in how bones grow and form during fetal development. Babies with this condition are typically identified before or at birth because of distinctive features including bent or bowed long bones (the bones in the arms and legs), underdeveloped bones in the skull (cranial hypomineral
How is FGFR2-related bent bone dysplasia inherited?
FGFR2-related bent bone dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does FGFR2-related bent bone dysplasia typically begin?
Typical onset of FGFR2-related bent bone dysplasia is neonatal. Age of onset can vary across affected individuals.