Summarized by Plex Health
Last Updated: 08 May 2022
the ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications. "the ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.", by Rondon AV, Leslie B, Netto JM, Freitas RG, Ortiz V, Macedo Junior A. f01: Facial pictures of patients 1, 2 and 3, showing the unusual facial expression of grimace when attempting to smile. Note that in the top pictures, patients are in a neutral facial expression while in...

Urofacial syndrome UFS is an extremely unusual inherited disorder defined by unusual face expression and disorder of the urinary system tract. The urinary irregularity is due to a failure of nerve signals between the bladder and the spinal cord resulting in incomplete emptying of the bladder. Furthermore, neurogenic bladder might cause involuntary discharge of urine, urinary system tract infections, and/or abnormal buildup of urine in the kidneys. Urofacial syndrome was first explained in 1960s by Dr. Bernardo Ochoa, a urological doctor and scientist from Colombia, South America. The symptoms and extent of urofacial syndrome can differ greatly, even among members of the same family. The urinary system abnormality is an obstructive disease of the urinary tract that can be present at birth. Neurogenic bladder might lead to the heartburn of urine into the tubes that normally bring urine to the bladder from the kidneys; an abnormal swelling of and buildup of urine in the kidneys and ureters. Obstructive abnormalities of the urinary system tract might lead to urinary tract damages and duplicated urinary system infections. Without suitable therapy, repeated urinary system infections and persistent damage to the kidney tract may inevitably lead to chronic renal failure. The precise proportion of affected people who at some point develop renal failure is unknown yet early therapy can decrease the possibility of this end result. Some individuals with the disorder might additionally have high blood pressure due to kidney damages. Some children might develop encopresis, a problem in which the failure to have defecation causes stool to gather in the colon or rectum.

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