What is Urofacial Syndrome

Urofacial Syndrome is a rare genetic disorder that affects the urinary and facial systems. It is characterized by a combination of urinary tract dysfunction and distinctive facial features.

Individuals with Urofacial Syndrome often experience difficulties in controlling their bladder and may have urinary incontinence or urinary retention. This can lead to recurrent urinary tract infections and kidney problems.

The facial features associated with Urofacial Syndrome include a flat nasal bridge, wide-set eyes, a small mouth, and a thin upper lip. These facial characteristics can vary in severity among affected individuals.

Urofacial Syndrome is caused by mutations in certain genes that are involved in the development of the urinary and facial systems. It is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Management of Urofacial Syndrome involves a multidisciplinary approach, including urologists, nephrologists, and geneticists. Treatment options may include medication, surgery, and supportive therapies to address the urinary and facial symptoms.