urofacial syndrome

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying.

Etiology

 LRIG2 Mutations Cause Urofacial Syndrome. (doi : 10.1016/j.ajhg.2012.12 002 )

• Rare variants in LRIG2 might be relevant to nonsyndromic bladder disease.
• UFS is also caused by mutations in HPSE2, encoding heparanase-2.
• LRIG2 and heparanase-2 are immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract.