What are the other Names for this Condition? (Also known as/Synonyms)
- Amelocerebrohypohidrotic Syndrome
- Epilepsy and Yellow Teeth
- Epilepsy Dementia Amelogenesis Imperfecta
What is Kohlschutter Tonz Syndrome? (Definition/Background Information)
- Kohlschütter-Tönz Syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome
- It is characterized by the triad of amelogenesis imperfecta, infantile onset epilepsy, intellectual disability with or without regression and dementia
(Source: Amelocerebrohypohidrotic syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)
Who gets Kohlschutter Tonz Syndrome? (Age and Sex Distribution)
- Kohlschütter-Tönz Syndrome is a very rare congenital disorder. The presentation of symptoms may occur at birth, infancy or childhood
- Both males and females may be affected
- Worldwide, individuals of all racial and ethnic groups may be affected
What are the Risk Factors for Kohlschutter Tonz Syndrome? (Predisposing Factors)
- A positive family history may be an important risk factor, since Kohlschütter-Tönz Syndrome can be inherited
- Children born to consanguineous parents may bear an increased risk of being born with the disorder
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Kohlschutter Tonz Syndrome? (Etiology)
- Kohlschütter-Tönz Syndrome is caused by mutation(s) in either ROGDI or SLC13A5 gene
- The condition is inherited in an autosomal recessive manner
What are the Signs and Symptoms of Kohlschutter Tonz Syndrome?
The signs and symptoms of Kohlschütter-Tönz Syndrome may include:
- Cerebellar hypoplasia
- Cerebral atrophy
- Epileptic encephalopathy
- Hypoplasia of dental enamel
Very frequently present symptoms in 80-99% of the cases:
- Amelogenesis imperfecta
- Developmental regression
- EEG abnormality
- Yellow-brown discoloration of the teeth
Frequently present symptoms in 30-79% of the cases: Hypohidrosis
Occasionally present symptoms in 5-29% of the cases:
- Global developmental delay
- Short stature
(Source: Kohlschutter Tonz Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
How is Kohlschutter Tonz Syndrome Diagnosed?
Kohlschütter-Tönz Syndrome is diagnosed on the basis of the following information:
- Complete physical examination
- Thorough medical history evaluation
- Assessment of signs and symptoms
- Laboratory tests
- Imaging studies
- Biopsy studies, if necessary
- Molecular genetic testing to check for or confirm causative gene mutation(s)
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Kohlschutter Tonz Syndrome?
The complications of Kohlschütter-Tönz Syndrome may include:
- Severe intellectual deficiency
- Lack of speech development
- Risk of falls and injury due to seizures
- Severe problems with movement, becoming bed-ridden at a young age
- Reduced quality of life
Complications may occur with or without treatment, and in some cases, due to treatment also.
How is Kohlschutter Tonz Syndrome Treated?
There is no cure for Kohlschütter-Tönz Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.
How can Kohlschutter Tonz Syndrome be Prevented?
Currently, Kohlschütter-Tönz Syndrome may not be preventable, since it is a genetic disorder.
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy), if available, may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
Regular medical screening at periodic intervals with tests and physical examinations are recommended.
What is the Prognosis of Kohlschutter Tonz Syndrome? (Outcomes/Resolutions)
- The prognosis of Kohlschütter-Tönz Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
- Individuals with mild conditions have better prognosis than those with severe symptoms and complications
- Typically, the prognosis may be assessed on a case-by-case basis
Additional and Relevant Useful Information for Kohlschutter Tonz Syndrome:
- Kohlschütter-Tönz Syndrome is also known as Kohlschutter Syndrome
The following DoveMed website link is a useful resource for additional information: