Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)

What is Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)?

This rare disease a neurodevelopmental disorder that is usually identified at birth or during infancy.

The syndrome does not affect the development of the structure of the brain but individuals present with extreme global developmental delay, limited or no speech, and limited or no ability to walk independently.

What gene changes cause Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)?

Changes in the UNC80 gene cause the syndrome. It is inherited in an autosomal recessive manner.

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 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)?

Intellectual disability and severe global developmental delay are the main and most severe symptoms of the syndrome. As are a failure to thrive and seizures.

Low muscle tone, or hypotonia, affecting all parts of the body is also common and usually will affect an individual's ability to walk. Scoliosis, a skeletal abnormality, is also a symptom.

Unique facial features of the syndrome include a very small head, and crossed eyes (strabismus).

How does someone get tested for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)?

The initial testing for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 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

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