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Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
ORPHA:2704Classification level: Disorder
- Hydronephrosis-inverted smile syndrome
- Inverted smile-neurogenic bladder syndrome
- Partial facial palsy with urinary abnormalities
- Urofacial syndrome
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: N31.8
- OMIM: 236730 615112
- UMLS: C0403555
- MeSH: C536480
- GARD: 104
- MedDRA: -
Over 100 patients have been described so far.
Patients with Ochoa syndrome present with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction is the result of an obstructive uropathy. About two-thirds of the patients have moderate to severe constipation. Cryptorchidism has also been reported. The peculiar facial dysmorphism is related to an unusual inversion of facial expression that occurs when the child smiles or cries.
A potential gene has been mapped to chromosome 10q23-q24.
Diagnosis may be suspected following recognition of the peculiar facial expression during infancy. Ultrasonography, renal scan, voiding cystourethrogram and urodynamics can be used to evaluate the lower urinary tract dysfunction.
The syndrome is inherited as an autosomal recessive trait.
Management and treatment
Treatment is symptomatic and involves bladder re-education, antibiotic prophylaxis, anticholinergic therapy and alpha-blockers. Intermittent catheterization may be needed. Constipation should be treated. Early diagnosis and treatment are essential in order to prevent upper urinary tract deterioration and renal failure.
- Clinical genetics review
- English (2018)