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[edit | edit source]
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[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:
- 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[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]
- Amelogenesis imperfecta
- Epilepsy
- Intellectual disability
- Genetic disorder
- Autosomal recessive
- ROGDI gene
Categories[edit | edit source]
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Contributors: Prab R. Tumpati, MD