Temple–Baraitser syndrome

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Temple–Baraitser syndrome
File:Temple Baraitser Hand.jpg Characteristic hand features in Temple–Baraitser syndrome
Synonyms	TBS
Pronounce
Specialty	Medical genetics
Symptoms	Intellectual disability, epilepsy, hypotonia, aplasia or hypoplasia of the nails
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the KCNH1 gene
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Coffin–Siris syndrome, Zimmermann–Laband syndrome
Prevention
Treatment	Symptomatic treatment, antiepileptic drugs
Medication
Prognosis	Variable, depends on severity of symptoms
Frequency	Rare, exact prevalence unknown
Deaths

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

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

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

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

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

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

• List of genetic disorders
• Intellectual disability
• Epilepsy
• KCNH1

NIH genetic and rare disease info

• NIH info on Temple–Baraitser syndrome

Temple–Baraitser syndrome is a rare disease.