Rare Cherubism Condition Discovered in Family, Causing Distinctive Facial Features
A rare condition, cherubism, has been discovered in a family, causing distinctive facial features in their children. This benign fibro-osseous condition, first observed in 1931, is characterized by full cheeks, chins, and visible scleras. It is caused by a mutation in the SH3BP2 gene on chromosome 4p16.3.
Dr. W.A. Jones, who first identified the condition, named it 'cherubism' due to the children's resemblance to cherubim in art. The condition typically begins as painless, hard swellings in the mandible, which may later spread to other facial bones, causing facial enlargement. Diagnosis is usually clinical, confirmed by X-ray, and it can resemble other jaw tumors like ameloblastoma or giant cell granuloma, but cherubism has bilateral symmetry and a later onset.
Cherubism is an autosomal dominant disorder, meaning only one copy of the mutated SH3BP2 gene is needed to cause the condition. The gene's mutation leads to abnormal signal transmission, affecting the growth and differentiation of bone cells. Treatment is best delayed until puberty, focusing on managing symptoms and correcting aesthetic and functional impacts through surgical interventions.
Cherubism, a rare condition causing distinctive facial features, has been found in a family. Caused by a mutation in the SH3BP2 gene, it is diagnosed clinically and confirmed by X-ray. While its genetic basis is understood, further research is needed to fully comprehend its molecular mechanisms and develop targeted therapies.
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