GTR Home > Conditions/Phenotypes > Ochoa syndrome

Summary

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial Syndrome Urofacial syndrome-2 (UFS2; 615112) is caused by mutation in the LRIG2 gene (608869) on chromosome 1p13. [from OMIM]

Available tests

1 test is in the database for this condition. See lab offering the test.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

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  • Constipation
  • Recurrent urinary tract infections
  • Cryptorchidism
  • Hydroureter
  • Hydronephrosis
  • Enuresis
  • Abnormal facial shape
  • Abnormal facial expression
  • Urethral valve
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