Ochoa syndrome (Q94188): Difference between revisions
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A síndrome de Ochoa é uma síndrome genética caracterizada pela associação de disfunção miccional grave e uma expressão facial característica. Pacientes com síndrome de Ochoa apresentam incontinência, infecção do trato urinário e hidronefrose. A disfunção miccional é o resultado de uma uropatia obstrutiva. O peculiar dismorfismo facial está relacionado a uma inversão incomum da expressão facial que ocorre quando a criança sorri ou chora. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
