Urofacial syndrome

Ochoa syndrome, also called urofacial syndrome or  hydronephrosis with peculiar facial expression, is an autosomal recessive congenital disorder characterized by inverted facial expressions in association with obstructive disease of the urinary tract.

It may be associated with HPSE2.

Characteristics
Infants with the disorder exhibit an inverted smile; they appear to be crying when they are actually smiling, in conjunction with uropathy. They also may be affected by hydronephrosis.