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Start free with EleplanUrofacial syndrome
ORPHA:2704Malformation syndrome
Also called Hydronephrosis-inverted smile syndrome · Inverted smile-neurogenic bladder syndrome · Ochoa facial syndrome · Ochoa syndrome · Partial facial palsy with urinary abnormalities
What it is
A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
6These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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