Living with Bent bone dysplasia syndrome 1
A rare genetic bone condition that affects the skull, collarbones, and long bones, starting before birth.
Understanding Bent bone dysplasia syndrome 1
It involves thin or poorly hardened skull bones, early fusion of skull bones (craniosynostosis), small pubic bones and collarbones, low bone density, and bent long bones. Facial features include low-set ears, widely spaced eyes, a flat midface, and a small chin. Some babies are born with teeth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early fusion of skull bones (craniosynostosis)
- Bent long bones
- Low bone density (osteopenia)
- Small lower jaw (micrognathia)
- Low-set ears and widely spaced eyes
- Teeth present at birth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in FGFR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FGFR2 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bbds1; fgfr2-related bent bone dysplasia; perinatal lethal bent bone dysplasia
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Bent bone dysplasia syndrome 1.
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