Urofacial syndrome (UFS)

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 is Urofacial syndrome 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.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more