Franceschetti syndrome

Mandibulofacial dysostosis with hypoplasia of the facial bones, downward angulation of the palpebral fissures, macrostomia, ear defects, and defectively formed extremities.


Treacher-Collins syndrome, a rare genetic disorder, leads to severe facial malformations. The condition is present from birth (congenital). It causes deformities in the nose, cheekbones, lower jaw, and chin, and may also result in a receding chin. Additionally, there is a noticeable droop to the outer corners of the eyes. However, with surgery to reconstruct the abnormal features, significant improvement in both appearance and function can be achieved.


 


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