A 6-year-old girl was confirmed Thursday as Vietnam’s first case of Cantú syndrome, a rare genetic condition with only 74 confirmed cases globally.
The girl, whose identity has not been revealed, is from the southern province of Ba Ria-Vung Tau. She was taken to the Ho Chi Minh City Hospital of Dermato Venereology last month to have her body hair waxed.
Her parents said she has had thick hair growth since birth, most notably in unusual areas like the face, neck, waist and limbs, the Vietnam News Agency reported.
The parents had taken her to several different hospitals but her condition remained undiagnosed.
As she would enter primary school in a few months, her parents decided to send her to the HCMC hospital to have her body hair waxed, which they believed would relieve her anxiety.
However, several anomalies with her skeletal structure, cardiovascular and neurological systems, among others, were found instead, said Tran Nguyen Anh Tu, deputy head of the hospital’s Skin Cosmetic Department.
Genetic tests later revealed she suffers from the Cantú syndrome, an extremely rare condition characterized by abnormal hair growth, bone and cartilage anomalies and cardiomegaly.
Since it was first described in 1982, there have only been 74 confirmed cases in medical history, said Tu.
The condition is apparently caused by a genetic mutation of the ABCC9 gene, located on a short arm of chromosome 12.
The symptoms have to be treated with surgeries, drugs and other methods.
This article was originally published in Vnexpress