Living with Gnathodiaphyseal dysplasia
A bone condition with fragile bones that break easily in childhood and jaw bone infections.
Understanding Gnathodiaphyseal dysplasia
Bone density is lower than normal (osteopenia), so people often have multiple fractures in childhood, often from mild injury or no obvious cause. The outer layer of the shafts of the long bones is unusually hard and thick, and the long bones may bow. Jaw problems are common, including jaw bone infections (osteomyelitis) with pain, swelling, loose teeth, and slow healing after tooth removal. Fractures heal normally, unlike in osteogenesis imperfecta.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low bone density (osteopenia)
- Frequent fractures in childhood
- Thickened outer layer of long bones
- Bowing of the long bones
- Jaw bone infections
- Broad jaw
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 ANO5 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
Osteogenesis Imperfecta Foundation and Children's Brittle Bone 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: Osteogenesis Imperfecta Foundation, Children's Brittle Bone 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 Osteogenesis Imperfecta 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 ANO5 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: gdd; gnathodiaphyseal dysplasia syndrome; gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions
Patient organizations
- Osteogenesis Imperfecta FoundationGnathodiaphyseal dysplasia · United States
- Children's Brittle Bone FoundationGnathodiaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Gnathodiaphyseal dysplasia.
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