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Ochoa syndrome

Orpha number ORPHA2704
Synonym(s) Hydronephrosis - inverted smile
Inverted smile - neurogenic bladder
Partial facial palsy with urinary abnormalities
Urofacial syndrome
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10 -
ICD-O -
OMIM
UMLS
  • C0403555
MeSH
  • C536480
MedDRA -

Summary

Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. 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. The syndrome is inherited as an autosomal recessive trait, and 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. 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.

Expert reviewer(s)

  • Pr Alain VERLOES

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Detailed information

Clinical genetics review
  • EN (2013)
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