Temple–Baraitser syndrome
Temple–Baraitser syndrome is a rare genetic disorder characterized by severe intellectual disability, distinctive facial features, and abnormalities of the hands and feet. It was first described by Temple and Baraitser in 1991.
Clinical Features[edit | edit source]
The clinical features of Temple–Baraitser syndrome include severe intellectual disability, epilepsy, distinctive facial features such as a broad forehead, deep-set eyes, a bulbous nose, and a wide mouth with a thin upper lip. The hands and feet show abnormalities including brachydactyly (short fingers and toes), clinodactyly (curved fingers and toes), and aplasia or hypoplasia of the nails and phalanges.
Genetics[edit | edit source]
Temple–Baraitser syndrome is caused by mutations in the KCNH1 gene, which encodes a protein that is part of a family of potassium channels. These channels play a crucial role in the electrical activity of neurons. The mutations in the KCNH1 gene lead to a gain of function, which results in increased neuronal excitability and may explain the neurological symptoms seen in this syndrome.
Diagnosis[edit | edit source]
The diagnosis of Temple–Baraitser syndrome is based on the clinical features and can be confirmed by genetic testing for mutations in the KCNH1 gene.
Treatment[edit | edit source]
There is no cure for Temple–Baraitser syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy to help improve motor skills and communication abilities. Medication may be used to manage seizures.
Prognosis[edit | edit source]
The prognosis for individuals with Temple–Baraitser syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as severe intellectual disability and recurrent seizures.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Temple–Baraitser syndrome is a rare disease.
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