A newborn presents with a large VSD, rocker bottom feet, overlapping second & third fingers, & fourth & fifth fingers with hypotonia. What is the most likely diagnosis?

A newborn presents with a large VSD, rocker bottom feet, overlapping second & third fingers, & fourth & fifth fingers with hypotonia. What is the most likely diagnosis?

• A. Fragile X syndrome
• B. Down syndrome
• C. Edwards Syndrome
• D. Klinefelter's syndrome

Answer: (C)

Rocker-bottom feet with overlapping second and third fingers and fourth and fifth fingers in a newborn, along with hypotonia and a large VSD, point strongly to Edwards syndrome (trisomy 18). This combination is a classic and well-recognized pattern in trisomy 18, where multiple congenital anomalies across organ systems—especially the cardiovascular system and limbs—are common and the tone is markedly reduced. The other conditions don’t fit this neonatal pattern as neatly: Fragile X is an X-linked disorder typically showing later-onset intellectual disability and characteristic facial features rather than the distinct hand-foot anomalies seen here; Down syndrome can have hypotonia and congenital heart defects but does not characteristically present with rocker-bottom feet and overlapping fingers; Klinefelter’s syndrome presents in males with tall stature, hypogonadism, and other features not seen in this newborn presentation.

Rocker-bottom feet with overlapping second and third fingers and fourth and fifth fingers in a newborn, along with hypotonia and a large VSD, point strongly to Edwards syndrome (trisomy 18). This combination is a classic and well-recognized pattern in trisomy 18, where multiple congenital anomalies across organ systems—especially the cardiovascular system and limbs—are common and the tone is markedly reduced. The other conditions don’t fit this neonatal pattern as neatly: Fragile X is an X-linked disorder typically showing later-onset intellectual disability and characteristic facial features rather than the distinct hand-foot anomalies seen here; Down syndrome can have hypotonia and congenital heart defects but does not characteristically present with rocker-bottom feet and overlapping fingers; Klinefelter’s syndrome presents in males with tall stature, hypogonadism, and other features not seen in this newborn presentation.