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Definition

A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.

Acronym

UFS1

Synonyms

Hydronephrosis with peculiar facial expression
Inverted smile and occult neuropathic bladder
Ochoa syndrome
Partial facial palsy partial with urinary abnormalities
UFS
Urofacial syndrome

 
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