Definitions for wolf-hirschhorn syndrome
This page provides all possible meanings and translations of the word wolf-hirschhorn syndrome
U.S. National Library of Medicine
A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
Find a translation for the wolf-hirschhorn syndrome definition in other languages:
Select another language:
Discuss these wolf-hirschhorn syndrome definitions with the community:
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Use the citation below to add this definition to your bibliography:
"wolf-hirschhorn syndrome." Definitions.net. STANDS4 LLC, 2015. Web. 4 Jul 2015. <http://www.definitions.net/definition/wolf-hirschhorn syndrome>.