Holding On to Hope

Ochoa (urofacial) syndrome, also known as hydronephrosis with peculiar facial expression, is an extremely rare inherited disorder characterized by an abnormal facial expression and obstructive disease of the urinary tract (uropathy) that are 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 an obstructive uropathy in which 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). In some cases, affected individuals may develop renal failure during adolescence or the early 20s, potentially leading to life-threatening complications.

Ochoa syndrome occurs due to disruption or changes (mutations) of a gene on the long arm (q) of chromosome 10 (10q23-q24). Ochoa syndrome has been identified as an autosomal recessive trait.

Credit to - www.rarediseases.org