Paula and Bobby
Parents of Lillie
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3)
What is Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3)?
This rare disease is a neurodevelopmental delay disorder that presents either at birth or during infancy.
The main symptoms of the syndrome include delayed development, limited speech development, and usually an inability to walk unaided.
What gene changes cause Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3)?
Changes in the TBCK gene are responsible for causing the syndrome. The syndrome 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 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3)?
The main symptoms of the syndrome are delayed global development, limited to zero speech development, and limited ability to walk.
The syndrome also presents with unique facial features that include a bulbous or fat nose, deep set eyes, a narrow forehead, broad or thicker fingers, coarse facial features, a prominent nasal bridge, broad toe and highly arched eyebrows.
Low muscle tone, or hypotonia, is also another major symptom of the syndrome.
How does someone get tested for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 (IHPRF3)?
The initial testing for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 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.
What is FDNA Telehealth?
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