An autosomal dominant (OMIM:118400) condition with 100% penetration, characterised by a cherub-like enlargement of the lower face, which begins by age 4 and progresses until the late teens. It may be first recognised at age 5, when the child is obviously not losing the baby fat in his face.
Clinical findings Puffed cheeks, agenesis of permanent teeth, dental dysgenesis, exophthalmos, progressive, bilateral bone expansion, submandibular lymphadenopathy–which exacerbates the cherub-like appearance
Imaging Bilateral multilocular cystic (“bubbly”) changes of bone at the mandibular angle and in the maxilla and often in the anterior ends of the ribs.
Molecular pathology Defects in SH3BP2, which encodes a protein involved in signal transduction, cause cherubism.
Cultural footnote The cherubs seen above are in the Sistine Madonna (Madonna di San Sisto) an altarpiece oil painting by Raphael Sanzio commissioned in 1512 by Pope Julius II for the church of San Sisto in Piacenza. It is now in the permanent collection of the Gemäldegalerie Alte Meister in Dresden, Germany
Synonyms Cherubism syndrome, familial fibrous dysplasia of jaw, familial multilocular cystic disease of the jaw, familial multilocular cystic jaw disease, hereditary fibrous dysplasia of the jaws, Jones syndrome, mandibular cystic dysplasia