Jakarta –
Bohring-Opitz Syndrome Day or Bohring-Opitz Syndrome Day celebrated every year on 6 April. This anniversary is celebrated internationally and recognized throughout the world to raise awareness about this syndrome.
Quoted from National Today, the purpose of this day’s warning is to disseminate information and provide assistance to parents, caregivers and every individual affected by this syndrome. Apart from that, to disseminate understanding and support for anyone involved in facing it istrom Bohring-Opitz.
So, what’s the history? Bohring-Opitz Syndrome Day?
Today’s History of Bohring-Opitz Syndrome
Quoted from the National Today page, istrom Bohring-Opitz first described in 1999 due to medical findings, at that time the picture was not very clear. Since then, there have been rapid advances in the field of medicine and increased in 2011 regarding genetic changes. The researchers found more than half of the children they tested with a clinical diagnosis Bohring-Opitz Syndrome have a mutation in a gene called ASXL1.
In this research, professionals find and find out the causes of this disease and determine certain facts. For example, Bohring-Opitz syndrome is not an inherited disease so the risk of having a child born with the condition is very low.
On April 6, 2011, a group that first supported Bohring-Opitz Syndrome was founded by Sunne van Gemert-Godbersen and Gurganus became its representative. They created Bohring-Opitz Syndrome Awareness Day with the vision of spreading information throughout the world and continuing to support the community.
In 2015, it was founded Bohring-Opitz Syndrome Foundation which is a non-profit organization by Carrie Hunsucker and Taylor Gurganus. This organization aims to improve the lives of people affected by this disease through the formation of a medical advisory board and advocacy for parents and patients.
Actually, what is meant by istrom Bohring-Opitz?
Getting to know Bohring-Opitz Syndrome
Sindrom Bohring-Opitz is a rare genetic disease. Quoted from the National Center for Biotechnology Information (NCBI), this syndrome is characterized by distinctive facial characteristics and body posture.
Facial characteristics can include microcephaly (a head abnormality that is smaller than the usual size) or trigonocephaly (a condition where the skull has a bulge on the metopic bone), a hypotonic face (weakness of facial muscles) with full cheeks, syncophris or a condition where the two eyebrows are fused so they look like one connected eyebrows, nevus flammeus or pink spots between the eyebrows and eyelids, protruding eyeballs, eyes far apart.
In posture, people with this syndrome are conspicuous in childhood and often become less pronounced with age. This is characterized by flexion or an angle at the elbow with ulnar deviation (shifting or bending) and flexion of the wrist and metacarpophalangeal joints, namely the joints that connect the palm bones to the finger bones.
This syndrome is characterized by difficulty eating as a child, including frequent vomiting. Seizures are also common and usually responsive to epilepsy medications.
Someone who experiences istrom Bohring-Opitz may experience recurrent infections that also tend to improve with age. From existing case reports, people with this syndrome are at great risk of developing Wilms tumor, a type of kidney tumor that generally occurs in children, especially under the age of five. This tumor usually occurs in one kidney, but sometimes it can occur in both kidneys at once.
Bohring-Opitz Syndrome Day Twibbon
There are many ways to get involved in commemoration Bohring-Opitz Syndrome Day. Together, increase our sense of empathy and struggle for sufferers to keep them enthusiastic. Take part by uploading photos using twibbon which detikcom has collected from the following sources:
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2024-04-05 05:13:14
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