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Is Macroglossia Genetically Inherited
Narration by : Geetika Raj ( Medical Writer Intern at Kroynas)
Link : www.genedent.com
👉🏻What is macroglossia?
Macroglossia is the abnormal enlargement of the tongue. In rare cases, macroglossia occurs as an isolated finding that is present at birth (congenital).
👉🏻Causes of macroglossia?
Macroglossia may be found in individuals affected by certain inherited or congenital disorders including Beckwith-Wiedemann syndrome, acromegaly, primary amyloidosis, congenital hypothyroidism, Down syndrome, Apert syndrome, and many others.
👉🏻Genetics and macroglossia?
It is a relatively uncommon condition. Isolated true macroglossia alone in its autosomal dominant form is a very rare condition
Beckwith-Wiedemann syndrome (BWS) has been linked to an abnormality with chromosome 11. About 15 percent of cases are hereditary, meaning it is passed on from a parent. The other 85 percent of cases seem to occur by chance. This shows that macroglossia occurs
BWS is an overgrowth disorder characterized by macroglossia, gigantism, midline abdominal wall defects, neonatal hypoglycemia, and visceromegaly.
In 95% of the cases acromegaly occurs occasionally but almost 50% of the childhood-onset cases have an identifiable genetic background, most commonly AIP or GPR101 mutations and hence leading to macroglossia
In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies. This trisomy 21 can lead to macroglossia.
#learndentalgenetics #kroynas #macroglossia #mutations
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