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.
Sample Sentences & Example Usage
Anna has Wolf-Hirschhorn Syndrome, a rather rare genetic condition, affecting one in 50,000. The main problems she faces are hypotonia, meaning she has very little strength, she has growth problems, intellectual disability, her communication is very, very basic, and once in a while she has epileptic seizures. So one of the problems she faces is how to interact with her surroundings, so the chair could primarily help her do that. The fact that she has to push a button in order to do something, allows her to interact.
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"wolf-hirschhorn syndrome." Definitions.net. STANDS4 LLC, 2016. Web. 13 Feb. 2016. <http://www.definitions.net/definition/wolf-hirschhorn syndrome>.