Ochoa syndrome (Q94188): Difference between revisions

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Latest revision as of 09:18, 16 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_443886910
English	Ochoa syndrome	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.