Ochoa syndrome (Q94188)

Ochoa syndrome is a genetic syndrome characterised by the association of severe voiding dysfunction and a characteristic facial expression. Patients with Ochoa syndrome present with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction is the result of an obstructive uropathy. The peculiar facial dysmorphism is related to an unusual inversion of facial expression that occurs when the child smiles or cries.