Treacher Collins-Franceschetti syndrome

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Treacher Collins-Franceschetti syndrome 

Aka mandibulofacial dysostosis

Autosomal dominant disorder of variable degree of penetrance

Abnormal craniofacial development

 

Genetics & pathogenesis

TCOF 1 mutation on chromosome 5 leading to abnormal 1st & 2nd branchial arch development.

TCOF1 encodes protein called treacle expressed in neural crest cells.

Macroscopically, craniofacial tissues such as cartilage, bone, and connective tissues fail to develop correctly as a direct result of neural crest cell dysfunction.

 

Clinical Features

Malar Hypoplasia

Cleft in the zygoma

Antimongoloid slant

Colobomas along lateral 1/3rd of lower eyelid

Absence of eyelashes in the medial 2/3rd of lower eyelid

Convex profile of face with retrusive chin &jaw

External ear abnormalities

Conductive type of hearing loss

Cleft lip


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