Fibrous dysplasia (FD) is a rare bone condition marked by irregular bone growth. Craniofacial FD can lead to facial disfigurement, vision loss, jaw issues and pain for affected patients. FD is typically diagnosed through clinical symptoms, imaging and genetic testing. However, false negative diagnoses commonly exist due to FD being expressed only in specific cell types.
In April 2025, researchers at Children's Hospital of Philadelphia (CHOP) published a new study in The Journal of Craniofacial Surgery, reviewing six FD cases seen at CHOP to benchmark the current methods used to diagnose FD. The team, led by Eric Liao, MD, PhD, found variable results when looking at CT imaging and tissue samples for the six patients. The team then conducted specific genetic testing targeted at GNAS, a gene whose mutations are known to cause FD, in affected tissue. All six patients had similar mutations in GNAS. With patient consent, the researchers also harvested cells from affected FD tissue and created lines of patient-derived cells. Genetic testing of these lab-grown cells showed the same GNAS mutations found in patient tissue samples. Together, these findings highlight the complex biology of FD and suggest culturing cells for molecular testing could aid in more precise diagnoses and research.
Read the full journal publication.
Featured in this article
Experts
Specialties & Programs
Research
Fibrous dysplasia (FD) is a rare bone condition marked by irregular bone growth. Craniofacial FD can lead to facial disfigurement, vision loss, jaw issues and pain for affected patients. FD is typically diagnosed through clinical symptoms, imaging and genetic testing. However, false negative diagnoses commonly exist due to FD being expressed only in specific cell types.
In April 2025, researchers at Children's Hospital of Philadelphia (CHOP) published a new study in The Journal of Craniofacial Surgery, reviewing six FD cases seen at CHOP to benchmark the current methods used to diagnose FD. The team, led by Eric Liao, MD, PhD, found variable results when looking at CT imaging and tissue samples for the six patients. The team then conducted specific genetic testing targeted at GNAS, a gene whose mutations are known to cause FD, in affected tissue. All six patients had similar mutations in GNAS. With patient consent, the researchers also harvested cells from affected FD tissue and created lines of patient-derived cells. Genetic testing of these lab-grown cells showed the same GNAS mutations found in patient tissue samples. Together, these findings highlight the complex biology of FD and suggest culturing cells for molecular testing could aid in more precise diagnoses and research.
Read the full journal publication.
Recommended reading
Craniofacial Fibrous Dysplasia
Craniofacial fibrous dysplasia is a bone disease of the face and skull that replaces normal bone with fibrous-type tissue, and may cause shifting of facial features and facial asymmetry.
Contact us
Craniofacial Program