Kohlschütter-Tönz syndrome

Kohlschütter-Tönz syndrome is a rare genetic disorder characterized by a combination of amelogenesis imperfecta, epilepsy, and intellectual disability. The syndrome was first described by Kohlschütter and Tönz in 1974.

Presentation

Individuals with Kohlschütter-Tönz syndrome typically present with:

• Amelogenesis imperfecta: A defect in the formation of tooth enamel, leading to discolored, fragile teeth.
• Epilepsy: Recurrent seizures that may vary in type and severity.
• Intellectual disability: Ranging from mild to severe cognitive impairment.

Genetics

Kohlschütter-Tönz syndrome is inherited in an autosomal recessive manner. Mutations in the ROGDI gene have been identified as the cause of the syndrome. The ROGDI gene is involved in the development and function of the nervous system and tooth enamel.

Diagnosis

Diagnosis of Kohlschütter-Tönz syndrome is based on clinical features, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the ROGDI gene.

Management

There is no cure for Kohlschütter-Tönz syndrome. Management focuses on treating the symptoms and may include:

• Dental care: Regular dental check-ups and treatments to manage amelogenesis imperfecta.
• Antiepileptic drugs: To control seizures.
• Special education and therapies: To support individuals with intellectual disabilities.

Prognosis

The prognosis for individuals with Kohlschütter-Tönz syndrome varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals.

Related Pages

• Amelogenesis imperfecta
• Epilepsy
• Intellectual disability
• Genetic disorder
• Autosomal recessive
• ROGDI gene