Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an autosomal recessive congenital disorder characterized by inverted facial expressions in association with obstructive disease of the urinary tract. The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, this inverted smile is easy to see when the child is smiling and laughing. Early detection is vital for establishing a better prognosis as urinary related problems associated with this disease can cause harm if left untreated. Incontinence is another easily detectable symptom of the syndrome that is due to detrusor-sphincter discoordination, although it can easily be mistaken for pyelonephritis.
It may be associated with HPSE2.
Read more about Urofacial Syndrome: Characteristics, Cause, Treatment, Epidemiology
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