Genomic coordinate (human (HPSE2) & Cytoband ( human 10q24.2 HPSE2).
- Here I present: “Ochoa Urofacial Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HPSE2 ) icd10=N31.8
Ochoa Urofacial Syndrome (UFS)is a genetic disorder characterized by a unique combination of abnormal facial expressions and urinary tract dysfunction. It is also known as “Inverted Smile Syndrome” because affected individuals appear to be scowling, crying, or in pain when they attempt to smile or laugh.
Key Characteristics.
Facial Expression (Pathognomonic): A distinctive “inverted smile” where muscles at the corners of the mouth and eyes contract simultaneously, making a happy expression look like a grimace.
Urinary Dysfunction: Patients suffer from a “non-neurogenic neurogenic bladder,” meaning the bladder does not empty properly despite no obvious nerve damage. This can lead to:
Frequent Urinary Tract Infections and bedwetting (enuresis).
Hydronephrosis (swelling of the kidneys due to urine buildup). Potential kidney failure if left untreated.
Bowel Issues: Approximately two-thirds of patients experience chronic constipation or encopresis (loss of bowel control).
Nocturnal Lagophthalmos: Inability to fully close the eyelids while sleeping, which can lead to eye irritation or damage.
Causes and Genetics
The syndrome is inherited in an autosomal recessive pattern, meaning a child must inherit a faulty gene from both parents to be affected. It is primarily caused by mutations in two genes:
HPSE2: Located on chromosome 10, this is the most common cause.
LRIG2: A second causative gene identified on chromosome 1.
These mutations likely disrupt the development or signaling of nerves that control the muscles of the face and the urinary tract. - There is evidence that Ochoa Urofacial Syndrome is caused by mutation in the heparanase-2 (HPSE2) gene
encoded on genomic coordinate 10:98,457,077 and cytoband 10q24.2 in humans.
