National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kohlschutter Tonz syndrome


Other Names:
Epilepsy dementia amelogenesis imperfecta; Kohlschutter syndrome; Epilepsy and yellow teeth
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1946

Definition
Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Amelogenesis imperfecta 0000705
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
EEG abnormality 0002353
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Yellow-brown discoloration of the teeth
Yellow-brown discolored teeth
0006286
30%-79% of people have these symptoms
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
5%-29% of people have these symptoms
Global developmental delay 0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Percent of people who have these symptoms is not available through HPO
Ataxia 0001251
Autosomal recessive inheritance 0000007
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ] 		0001321
Cerebral atrophy
Degeneration of cerebrum
0002059
Epileptic encephalopathy 0200134
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypsarrhythmia 0002521
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Variable expressivity 0003828
Ventriculomegaly 0002119
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kohlschutter Tonz syndrome. Click on the link to view a sample search on this topic.

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