Wolf-Hirschhorn Syndrome
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Random blog day boo yah. As you should know Fridays is random blog day were we talk anything and everything and pretty much run with it. Today's blog is on Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome or WHS for short is a Chromosomal deletion Syndrome which is a result of a partial deletion on the short arm of Chromosome 4. The most common characteristics include craniofacial phenotype (Microceohaly, Micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), restriction of growth, intellectual disability, muscle hypotonia, seizures and congenital heart defects. Lesser characteristics include hypospadias, colobomata of the iris, renal abnormalities and deafness.
Wolf-Hirschhorn Syndrome was first described in 1961 by Austrian-born American Kurt Hirschhorn, a paediatrician and his colleagues, this later gained traction and worldwide attention thanks to German geneticist Ulrich Wolf and his co-workers, especially thanks to their articles posted in Humangenetik, a German based scientific magazine.
87% of WHS cases are represented by a de Novo deletion of which 80% of the de Novo cases are paternity derived, whilst 13% of WHS cases are inherited by a parent with a chromosome translocation of which there is a 2 to 1 excess of maternal transmission.
The initial diagnosis is based on a distinct craniofacial phenotype after birth. Diagnosis is often confirmed by the detection of a deletion in the WHSCR, though symptoms can vary from person to person which means each patient should receive different types of evaluations including Neurological, Cardiac and Renal. Eye and Hearing exams are often essential as well as feeding and developmental examinations. The minimum birth incidence has ben estimated to be 1 in every 50,000. For various often unknown reasons WHS occurs in double the females than to males.
Clinicians treat WHS via the symptoms experienced by the individual. Some treatment methods include surgery for growth abnormalities. Others include educational programs that help with cognition, physical therapy and medication for seizures.
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THE WEBSITE BIBLIOGRAPHY:
https://en.wikipedia.org/wiki/Wolf%E2%80%93Hirschhorn_syndrome
https://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/
https://my.clevelandclinic.org/health/diseases/24230-wolf-hirschhorn-syndrome
https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome
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