Urofacial syndrome

What is Urofacial syndrome?

It is a very rare genetic syndrome. The two main features of this syndrome are what is referred to as an unusual facial expression and uropathy-which is a disorder of the urinary tract. It is also sometimes referred to as Ochoa syndrome.

More than 150 cases of the syndrome have currently been recognized. The majority of these cases have been reported from Columbia but the syndrome has also been diagnosed in individuals from a broad range of countries including the US, UK, Kuwait, Denmark and Spain.

It is believed that there is a degree of underdiagnosis with Ochoa syndrome. And the actual figures should be higher.

Syndrome Synonyms:
Facial Palsy, Partial, With Urinary Abnormalities Hydronephrosis With Peculiar Facial Expression Inverted Smile And Occult Neuropathic Bladder Ochoa Syndrome Urofacial Syndrome; Ufs

What gene changes cause Urofacial syndrome?

Two genes are responsible for the syndrome, the HPSE2 gene or the LRIG2 gene. However it is believed there may also be, as yet undiscovered genes, that may also cause the syndrome.

It is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Urofacial syndrome?

One of the main symptoms of the syndrome is an unusual facial expression. This is caused by the inversion of the facial muscles in affected individuals, meaning their face grimaces or cries when they are trying to smile or laugh. The opposite expression to the actual emotion appears.
Uropathy, a disorder of the urinary tract, is another defining symptom of the syndrome. Due to anomalies in the signaling between the bladder and spinal cord, the bladder does not empty fully. This in turn can lead to obstructions in the bladder which can trigger constant urinary tract infections and damage to the urinary tract over time.
Another major symptom is constipation which can also lead to other related issues if left untreated.

Possible clinical traits/features:
Abnormal facial expression, Urethral valve, Autosomal recessive inheritance, Recurrent urinary tract infections, Enuresis, Cryptorchidism, Abnormal facial shape, Constipation, Hydroureter, Hydronephrosis

How does someone get tested for Urofacial syndrome?

The initial testing for Urofacial syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Medical information on Urofacial syndrome

This information is courtesy of the London Medical Databases, the most comprehensive resource for photos and information regarding syndromes, genes, and clinical phenotypes.

Syndrome Overview:
Urofacial syndrome is an autosomal recessive disorder categorized by congenital urinary bladder dysfunction coupled with a grimaced facial appearance upon smiling. Biallelic mutations in the LRIG2 gene have been shown to cause Urofacial syndrome 2 (Stuart et al., 2013). Subsequent disease-causing mutations in the LRIG2 gene were reported by Fadda et al., (2016).

Clinical Description:
The hallmarks of this syndrome are congenital urinary bladder voiding dysfunction and a grimaced facial expression when smiling.

Crying or smiling produces an unusual facial grimace, described as a lateral displacement of the mouth with flattening of the nose and accentuation of the nasolabial sulcus and cheek muscles. Nocturnal lagophthalmos (inability to close the eyes during sleep) has been commented on by Mermerkaya et al., (2014).

At birth, the bladder is unable to void completely, which may lead to urinary issues including fetal megacystis, urinary incontinence, vesicoureteric reflux, urosepsis and end-stage renal disease. The mechanism underlying the dysfunctional urinary voiding remains largely unknown, as there is no apparent neurological or urinary obstructive cause.

Constipation occurs in about 66% of affected individuals and encopresis in 33% (Ochoa, 2004).

Muscular thickening and trabeculation may or may not be observed in imaging of the bladder.

Intellect, development and growth are typically not affected. MRI scans of the brain and spine are usually normal.

Woolf et al., (2013) provide a review of common clinical characteristics by age, differential diagnosis, and molecular activity of both the HPSE2 and LRIG2 genes. A similar review was conducted by Tu et al., (2014), and typical clinical characteristics are documented, such as facial expression (grimacing as if in pain or sadness when trying to smile or laugh), nocturnal lagophthalmos, urinary tract infection, enuresis, vesicoureteral reflux, dysfunctional voiding, hydronephrosis, progression to renal failure, constipation and encopresis.

Prenatal Presentation:
Urofacial syndrome may present as fetal megacystis during the prenatal period.

Age of Onset:
Both the urinary bladder voiding dysfunction and abnormal facial expression are present at birth.

Genotype-Phenotype Correlations:
The phenotype is variable, even among affected individuals within the same family.

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