Definition

Wolf-Hirschhorn syndrome (WHS) refers to a condition that is caused by a missing part (deletion) of the short arm of chromosome 4. This missing genetic material results in severe developmental retardation, a characteristic facial appearance, and may include a variety of other birth defects.

Description

This syndrome was reported in 1965 in published reports by Wolf and Hirschhorn, who described that the characteristics of the syndrome were associated with a deletion of part of the short arm of chromosome 4. The short arm of a chromosome is called the "p" arm. Thus, this syndrome is also known as 4p-syndrome or deletion 4p syndrome, and occasionally as Wolf syndrome.

A normal human karyotype consists...