Disease - Urofacial syndrome 1
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
Inverted smile and occult neuropathic bladder
Ochoa syndrome
Partial facial palsy partial with urinary abnormalities
UFS
Urofacial syndrome
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
