Rare genetic disorders require attention

International KBG Syndrome Awareness Day is observed on June 11 with the aim to support people with the condition and find the best possible treatment options for human beings suffering from multiple deformities and malfunctions of the body.Unlike any other abbreviation, KBG stands for the initials of surnames (last names) of the first three families identified with the condition.The KBG Syndrome Awareness Day was first celebrated in 2016 by the KBG Foundation, an NGO dedicated to support the awareness drive and research in the field that is yet to draw the attention of the medical world globally.Essentially a manifestation of ANKRD11 gene, responsible for production of a protein of Ankyrin family, the KBG syndrome results in genetic disorder characterised by short stature, orthodontic abnormalities, limbs deformity, deformity of bones of vertebral column (spine) and deformities of extremities or basically underdevelopment of skeleton. Intellectual disability and developmental retardation are among other effects, which normally do not disturb the individuals suffering from the disorder.Some distinctive features for those with the syndrome may include a V-shaped face, unusually large upper front teeth (incisors ), thinner upper lip, prominent nose bridge, wide eyebrows and short but wide skull.Only a fraction of the medical fraternity has since come to know about the coexistence of symptoms in patients suffering from the condition which usually goes undiagnosed.According to an estimate, around 200 cases of the KBG syndrome have been noticed during the last half century when the first cases were diagnosed in 1975. Several cases might have gone unnoticed and untreated during these five decades. Presently, there is a noticeable lack of platforms to observe the day and enabling people to get information about the syndrome is one of the best ways to observe it. Raising awareness, volunteering, fundraising, promoting research and helping the victims improve their lifestyle have been mentioned as ways to celebrate the day, by the KBG Foundation.Though there seems to be no direct link of the condition with sex chromosomes (X and Y), more males (60 per cent) than females (40 per cent) have been known to be suffering from the genetic disorder. KBG is inherited through dominant recessive inheritance of autosomes (chromosomes other than sex chromosomes).Currently, there is no standard treatment for the condition and symptoms are managed and treated as and when they arise. If known cases are presumed to be the only cases, then only .000002 per cent of the total population of the world is found to be affected.

Rare genetic disorders require attention

Mahesh Sharma

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