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GENATLAS PHENOTYPE
last update : 25-05-2010
Symbol UFS
Location 10q24.2
HGNC id 12521
Name urofacial syndrome
Other name(s) Ochoa syndrome
Corresponding gene HPSE2
Main clinical features
  • characterized by inverted facial musculature and congenital obstructive uropathy
  • hydronephrosis, hydroureter and a peculiar facial expression, mainly when smiling or crying
  • distorted face, dysfunctional voiding, such as repeated episodes of urinary tract infection, dysuria or incontinence, frequency, urgency, or enuresis, is the life-threatening component of the syndrom; gradually progresses to severe upper tract damage and the development of bladder trabeculation, vesicoureteral reflux (VUR), hydroureternephrosis, and subsequent renal failure (Pang 2010)
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    Type disease
    Remark(s)