Ochoa Syndrome
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Definition:

The Ochoa syndrome is a congenital syndrome in which an individual has inverted facial expressions. It is also referred to as urofacial syndrome or hydronephrosis with peculiar facial expression associated with obstructive disease of the urinary tract.


Symptoms and Signs:

Infants with Ochoa syndrome look like they are crying when they are smiling. They may also have a urinary abnormality resulting in involuntary urine discharge, urinary tract infections, or abnormal accumulation of urine in the kidneys. Other cases may develop to renal failure during adolescence or early 20s, which could lead to fatal complications.


Causes:

Ochoa syndrome is an inherited disorder caused by gene mutations.


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ochoasyndrome


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