What is a common finding in Treacher-Collins Syndrome?

Study for the Maternal-Fetal Medicine (MFM) Qualifying Exam. Explore comprehensive flashcards and detailed multiple-choice questions, each with hints and explanations to prepare effectively. Achieve success with confidence!

Micrognathia, or a small jaw, is indeed a common finding in Treacher-Collins Syndrome. This genetic disorder affects the development of bones and tissues in the face, particularly impacting structures derived from the first and second pharyngeal arches. The malformations often involve the mandible, leading to micrognathia as a characteristic feature.

In Treacher-Collins Syndrome, micrognathia is associated with various craniofacial dysmorphisms, which can also lead to further complications such as feeding difficulties and airway obstruction in infancy. The small mandible can significantly contribute to a flattened midface appearance, another hallmark of the syndrome. Additionally, individuals may exhibit underdeveloped cheekbones and other facial asymmetries, all of which are tied to the underlying genetic abnormalities affecting craniofacial development.

While polydactyly, encephalocele, and macrocephaly represent congenital anomalies, they are not features typically associated with Treacher-Collins Syndrome. Instead, the distinct characteristic of micrognathia prominently highlights the condition's association with abnormalities in craniofacial development. Thus, it serves as a key clinical indicator when diagnosing Treacher-Collins Syndrome.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy