Urofacial syndrome (UFS)

What is Urofacial syndrome?

Urofacial 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 of 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 is it diagnosed?

To find out if someone has a diagnosis of Urofacial syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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