Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an autosomal

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 recessive congenital disorder

Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...

 characterized by inverted facial expressions in association with obstructive disease of the urinary tract.

It may be associated with HPSE2

HPSE2

Heparanase-2 is an enzyme that in humans is encoded by the HPSE2 gene.It may be associated with urofacial syndrome.-Further reading:...

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Characteristics

Infants with the disorder exhibit an inverted smile; they appear to be crying when they are actually smiling, in conjunction with uropathy

Uropathy

In conventional medicine, a uropathy is a disease of the urinary system. Two major types are:* Obstructive uropathy * Reflux uropathy In alternative medicine, uropathy may be used to mean urine therapy....

. They also may be affected by hydronephrosis

Hydronephrosis

Hydronephrosis is distension and dilation of the renal pelvis calyces, usually caused by obstruction of the free flow of urine from the kidney, leading to progressive atrophy of the kidney...

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