Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed-out (-glophonic) areas that appear as lesions or holes on x-ray images. These lesions typically affect the long bones of the arms and legs.

Osteoglophonic dysplasia is caused by certain variants (also called mutations) in the FGFR1 gene, which  provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This protein is one of four fibroblast growth factor receptors, which are a family of proteins that attach (bind) to other proteins called fibroblast growth factors (FGFs). The growth factors and their receptors are involved in processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development. In particular, they play a major role in skeletal development.

Osteoglophonic dysplasia is a rare disorder, though its exact prevalence is unknown. Only about 24 cases are currently known or have been reported in the medical literature.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These affected individuals have no history of the disorder in their family. However, some individuals with the condition inherit the variant from one parent who also has the condition.

Published Date: May 03, 2024
Published By: National Institutes of Health