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Ochoa Syndrome

Written by Himabindhu
Medically Reviewed by The Medindia Medical Review Team on Apr 03, 2015
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Other Names :  

Urofacial syndrome, Hydronephrosis with peculiar facial expression

What is Ochoa Syndrome ?  

Ochoa syndrome is characterized by inverted facial expressions in combination with obstructive disease of the urinary tract. It is an autosomal recessive congenital disorder.


Cause(s) :  
  • Mutation or disruption of a gene
Symptoms :  
  • Infants exhibit an inverted smile, appear to be crying
  • Uropathy (disease of the urinary system)
  • Hydronephrosis (Water retention inside the kidney)
  • If undiagnosed, death in teenage or early 20s, due to renal failure
Diagnosis and Tests :  
  • Facial expressions
  • Kidney function tests
  • Ultrasound of kidney
  • Blood tests for urinary tract infection
Specialist to consult :  Urology

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