NORD gratefully acknowledges William G. Newman, MD, PhD, Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK, for assistance in the preparation of this report.
Urofacial syndrome (UFS), also known as hydronephrosis with peculiar facial expression, is an extremely rare inherited disorder characterized by an unusual facial expression and disorder of the urinary tract (uropathy) when the bladder tries to empty the outlet closes meaning that the urine goes back towards the kidneys rather than out of the body. This problem can be present at birth (congenital). When affected infants smile, their facial musculature turns upside down or “inverts” so that they appear to be grimacing or crying. The urinary abnormality is due to a failure of nerve signals between the bladder and the spinal cord results in incomplete emptying of the bladder (neurogenic or neuropathic bladder). In addition, neurogenic bladder may result in involuntary discharge of urine (enuresis), urinary tract infections, and/or abnormal accumulation of urine in the kidneys (hydronephrosis). Additional abnormalities may include inflammation of the kidneys and pelvis (pyelonephritis), backflow of urine into the tubes that carry urine from the kidney to the bladder (vesicoureteral reflex), and/or involuntary spasms of the ring of muscle around the anus (external sphincter). Intellect is not affected. Prompt diagnosis and treatment can reduce or potentially prevent severe, irreversible bladder and kidney damage. Urofacial syndrome can occur due to disruption or changes (mutations) of the HPSE2 gene or the LRIG2 gene and is inherited in an autosomal recessive manner.Introduction
Urofacial syndrome was first described in 1960s by Dr. Bernardo Ochoa, a urological surgeon and researcher from Colombia, South America. The disorder is also known as Ochoa syndrome and was originally believed to be a local disorder, unique to the region were it was first identified. Urofacial syndrome has since been identified in countries and ethnic groups worldwide.
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., kidney abnormalities].)
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