Living with Osteoglophonic dysplasia
A rare bone growth condition with skull and facial differences, short stature, and hollow-looking areas in the long bones.
Understanding Osteoglophonic dysplasia
On X-rays, the long bones show hollowed-out areas, likely noncancerous fibrous bone tumors, that grow in childhood and may shrink later. Skull bones often fuse too early (craniosynostosis). The face has a prominent forehead, widely spaced eyes, a flat nose bridge, and a protruding jaw. Many people have no visible teeth because the teeth never come in, and gums are often overgrown. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Early fusion of skull bones (craniosynostosis)
- Widely spaced eyes
- Multiple unerupted teeth
- Short upper arms and thighs
- Slow weight gain in infancy
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 FGFR1 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 FGFR1 gene cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: fgfr1-related osteoglophonic dysplasia; ogd; osteoglophonic dwarfism; osteoglosphonic 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 Osteoglophonic dysplasia.
Explore research for Osteoglophonic dysplasia
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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