Initial diagnosis is based on a distinct craniofacial phenotype after birth. Diagnosis of WHS is confirmed by the detection of a deletion in the WHSCR. Chromosomal microarray and Cytogenetic analysis.D4S96 or D4Z1 chromosome band 4p16.3–specific probe <unk><unk>  region, Vysis, Inc) is available for FISH study.
Wolf–Hirschhorn syndrome
Testicular dysgenesis syndrome
Dubowitz syndrome
Weissenbacher–Zweymüller syndrome
Marden–Walker syndrome
Roberts syndrome
Keppen–Lubinsky syndrome
Kallmann syndrome