Which genetic condition is associated with microcephaly, rocker-bottom feet, and clenched hands?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The genetic condition characterized by microcephaly, rocker-bottom feet, and clenched hands is Edwards' syndrome, also known as Trisomy 18. This condition is caused by the presence of an extra chromosome 18, leading to a range of developmental issues and physical abnormalities.

Microcephaly is common in Edwards' syndrome due to abnormal brain development. Rocker-bottom feet are a distinctive feature associated with this condition, where the foot appears to have a convex bottom, making it difficult for the individual to stand or walk normally. Clenched hands, often with overlapping fingers, are another hallmark of this syndrome, resulting from abnormal muscle tone and neurological development.

These specific features, along with the high rate of associated congenital abnormalities and significant mortality in early childhood, are what distinguish Edwards' syndrome from other conditions like Down syndrome (Trisomy 21), Patau syndrome (Trisomy 13), and Turner syndrome (monosomy X). Each of these has its unique set of clinical features that do not align with the combination given in the question.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy