What is a notable feature of Pfeifer Syndrome?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Pfeiffer Syndrome is characterized by specific physical features and the presence of certain health issues. One notable feature is a high prevalence of hearing loss among affected individuals, with studies indicating that about 92% of people with Pfeiffer Syndrome experience some degree of hearing impairment. This is primarily attributed to the structural changes in the skull and ears associated with the syndrome, which can affect normal auditory function.

The other features listed, while they may occur in a diverse range of syndromes or conditions, are not defining characteristics of Pfeiffer Syndrome. The absence of limbs, for example, may relate to other genetic or congenital syndromes, but is not typical of this condition. Syndactyly, the condition where some or all of the fingers are fused together, can occur in various syndromes, but it is not a hallmark of Pfeiffer Syndrome specifically. A flat nasal bridge is a common feature associated with a number of syndromic craniosynostoses but is not a distinctive or defining feature of Pfeiffer Syndrome. Thus, the significant and well-documented incidence of hearing loss distinctly outlines this syndrome's impact on affected individuals.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy