Physiology & Biochemistry · single question
Which syndrome causes deformity of the lower jaw, ear deformity, and hearing loss?
Show answer and explanation
Correct answer: D. Treacher Collins syndrome
- A. Pierre Robin involves micrognathia + glossoptosis + airway obstruction — no specific ear deformity/hearing loss.
- B. Crouzon syndrome features premature craniosynostosis, midface hypoplasia, and exophthalmos — but NOT the ear/jaw deformity pattern of Treacher Collins.
- C. Cherubism involves bilateral mandibular enlargement — no ear deformity or hearing loss.
- D. TREACHER COLLINS SYNDROME (mandibulofacial dysostosis) is characterized by: bilateral, symmetric LOWER JAW DEFORMITY (mandibular hypoplasia), EAR DEFORMITY (microtia, atretic ear canals), HEARING LOSS (conductive, due to middle ear malformations), downward-slanting palpebral fissures, coloboma of lower eyelid, and malar hypoplasia. It is autosomal dominant (TCOF1 gene).
Practice Physiology & Biochemistry questions Physiology & Biochemistry study notes