Kurt Hirschhorn

Kurt Hirschhorn (May 18, 1926 – November 25, 2022) was an Austrian-born American pediatrician, medical geneticist, and cytogeneticist who identified the chromosomal defects that underlie Wolf–Hirschhorn syndrome. He was the 2006 recipient of the John Howland Award, the highest award bestowed by the American Pediatric Society (APS).

Early life

Hirschhorn was born in Vienna. Their son Joel Hirschhorn is also a human geneticist.

Wolf–Hirschhorn syndrome

Wolf–Hirschhorn syndrome (WHS), caused by a chromosomal abnormality, is characterized by typical craniofacial features in infancy consisting of "Greek warrior helmet appearance" of the nose (the broad bridge of the nose continuing to the forehead), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits/tags.

All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay and mental deficiency of variable degree is present in all.