Cherubism is a rare genetic disorder characterized by bilateral swelling of the jaws due to cyst-like lesions.
These lesions typically begin to appear in early childhood and often regress after puberty. The condition is caused by a mutation in the SH3BP2 gene and follows an autosomal dominant inheritance pattern.
The phenotypic expression of cherubism can vary significantly, even among family members with the same genetic variant. In Denmark we are currently doing research on cherubism and planning more in collaboration with Norway and if possible with the rest of the Scandinavian countries.
For the past five years, Xenia has been the leader of the Danish Competence Center for Rare Oral Diseases. Her clinical and research work is deeply rooted in managing rare and complex conditions.
Prior to her current role, Xenia accumulated several years of experience in municipal dental care, with a particular focus on specialcare dentistry.
Xenia is a passionate advocate for patient rights, with a special emphasis on children and holistic care. She views the field of rare diseases as a team sport and always works from a broad, interdisciplinary perspective.
As a contribution for the Nordic research, the presentation will focus on one single rare disease; cherubism, which has taken a special focus for Xenias work in research.
Vi arbejder målrettet på at fremme forståelsen, udviklingen og tilgængeligheden af tandpleje til mennesker med funktionshæmning. Gennem fagligt samarbejde, vidensdeling og engagement ønsker vi at skabe en positiv forskel.
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