Isabella Blomey from the Australian town of Humpty Doo looks 2 years old, but she is actually 7 years old.
At 2 years old, the girl simply stopped growing, in addition, she always has short hair, they do not grow back so much after they were cut for the last time at 2 years old. According to her parents, Isabella is “frozen in time”.
Isabella's condition puzzled all the doctors who examined her. They were never able to find the cause of this anomaly. In addition to physical growth retardation, the girl has the same speech problems that she had at two years old.
Recently, the cause of the girl's illness was found, it turned out to be a rare Trichorhinophalangeal Syndrome. The mother of a boy with the same syndrome contacted Isabella's mother and told her what the disease was.
This extremely rare inherited disorder is characterized by fine hair, characteristic facial features, abnormalities in the development of the arms and legs, short stature, pear-shaped nose and large ears, and other abnormalities, depending on the severity.
Isabella is already attending school, where she studies in a special class. She doesn't like her short hair and sometimes wears a wig. Otherwise, according to the girl's mother, she is an ordinary child, she has her favorite hobbies, especially Disney cartoons, she loves pink, princesses Anna and Elsa from the cartoon "Frozen" and drawing.
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- Usually newborns grow larger in size every few months. And for Isabella, we did not buy new clothes until 4 months. She fit into the suits for the newly born, - says the girl's mother.
Mrs. Blomi created a Facebook page dedicated to Isabella and her syndrome. According to her, only 3 people from Australia with the same disease are now registered there, and in total there are several hundred such registered in the world. Soon she hopes to visit the American Mayo Clinic, where Isabella's DNA will be tested and it will be found out what type of disease she has.
