what is TBCK syndrome?

Variants within the disease-causing mutations result in a spectrum of symptoms and conditions including hypotonia, intellectual disability, and developmental delay. Every TBCK warrior is unique.

HOW IS TBCK SYNDROME DIAGNOSED?

Currently, Whole Exome Sequencing: a genetic test that identifies variations in the protein-coding region of genes, is used to diagnose TBCK Syndrome also called TBCK encephaloneuropathy and infantile hypotonia with psychomotor retardation and characteristic facies 3 (IHPRF3). Additionally, targeted TBCK gene testing can be used to confirm suspected cases with known family histories. Currently, there is no prenatal test specific for TBCK Syndrome. However, pre-genetic diagnosis (PGD) is available for families who know about their carrier status. In circumstances such as in-vitro fertilization, families can use PGD to identify affected embryos. 

WHAT CONDITIONS AND SYMPTOMS DOES TBCK CAUSE?

Like many diseases, there is a spectrum of the conditions and severity of impact of TBCK Syndrome. In general, the major conditions are hypotonia (low muscle tone), epilepsy, vision impairment, and intellectual disability. As the disease is still so new, and so rare, much more research is needed to deepen understanding of TBCK syndrome.

Common clinical symptoms include:

  • Global developmental delay

  • Hypotonia

  • Respiratory insufficiency

  • Epilepsy

  • MRI features include white matter changes, cerebellar atrophy, thin corpus callosum

  • Absent/severely delayed expressive language

  • Craniofacial dysmorphia

Less common symptoms that may be especially prevalent in severely affected/older patients include:

  • Hypothyroidism

  • Osteopenia

  • Hypercholesterolemia

  • Absence of speech or delay

Connect with Children’s
Hospital Of Philadelphia (CHOP)

TBCK FAMILY RESOURCES

You and your family are not alone in the challenge of a TBCK Syndrome diagnosis. Connect with families across the globe, share resources, and work towards a better future for all TBCK warriors.

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The TBCK Foundation is a registered 501(c)(3) charity organization. Please note that we provide this information for the benefit of TBCK syndrome community. We are not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on individualized medical advising from qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder. The TBCK Foundation is recognized as a 501(c)3 non-profit corporation. EIN 83-3095299.

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