Urofacial Syndrome - Characteristics

Characteristics

Infants with the disorder exhibit an inverted smile; they appear to be crying when they are actually smiling, in conjunction with uropathy. They also may be affected by hydronephrosis. Symptoms of this disease can start at very young ages. Many people with this syndrome will die in their teens to early 20s because of the renal failure (uropathy) if not diagnosed and treated. Children with the syndrome have abnormal facial development that cause an inverted smile, nerve connections are however normal. When attempting to smile, the child will appear to cry. Urinary problems arise as a result of a neurogenic bladder. Most patients older than the age of toilet training, present with enuresis, urinary-tract infection, hydronephrosis, and a spectrum of radiological abnormalities typical of obstructive or neurogenic bladders. Radiological abnormalities include things such as: trabeculated bladder, vesicoureteral reflex, external sphincter spasm, pyelonephritis, hyperreflexic bladder, noninhibited detrusor contraction, etc.. Urinary abnormalities might result in renal deterioration and failure. This can be prevented by taking proper measures to restore normal micturition and by taking antibiotics to prevent infections. In some cases, the affected patients become hypertensive and progress to end-stage renal disease, while others become uremic. Additionally, most patients suffer from constipation. Early detection of this syndrome is possible through the peculiar faces that children present.