Temple–Baraitser syndrome (TBS) is a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent nail of the thumbs and great toes, and distinct craniofacial features.
[3] Temple–Baraitser syndrome is diagnosed by clinical examination of a person with a severe developmental disability, intellectual impairment and epilepsy.
[7] Affected individuals should see a pediatrician or adult physician at least annually to monitor growth, development, seizures and general health and well-being.
[8] With fewer than 100 cases having been reported worldwide, the exact prevalence is unknown but is believed to be rare.
It is likely to be underdiagnosed, with one large study identifying 2.7% of people with intellectual disability to have a mutation in KCNH1.