Kohlschütter-Tönz syndrome

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

Individuals with Kohlschütter-Tönz syndrome typically present with:

Genetics[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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

Prognosis[edit | edit source]

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[edit | edit source]

Categories[edit | edit source]

Contributors: Prab R. Tumpati, MD