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amelocerebrohypohidrotic syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelocerebrohypohidrotic syndrome

MONDO:0009185

Also known as:Kohlschutter-Tonz syndromeepilepsy-dementia-amelogenesis imperfecta syndromeKTZS

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Overview

Kohlschütter-TC6nz 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.

GeneticsAutosomal recessive · ROGDI (chr 16)

Clinical Trials2 registered

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Delayed speech and language development, Delayed ability to walk, and Seizure; and common findings: Loss of previously acquired skills (developmental regression). 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Bilateral tonic-clonic seizure, Brain shrinkage (cerebral atrophy), Delayed speech and language development

Genetic Landscape

ROGDI function has not been fully characterized.

Amelocerebrohypohidrotic syndrome is caused by mutations in the ROGDI gene on chromosome 16.

Diagnosis

Genetic testing for ROGDI is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for amelocerebrohypohidrotic syndrome. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (14%).

Recent Publications

Cecere A (2025). [PMID: 41050536](https://pubmed.ncbi.nlm.nih.gov/41050536/). *European heart journal. Case reports*. [Case Report / Case Series]
Absawi MK (2025). [PMID: 40665224](https://pubmed.ncbi.nlm.nih.gov/40665224/). *BMC pediatrics*. [Case Report / Case Series]
Essid M (2025). [PMID: 39993789](https://pubmed.ncbi.nlm.nih.gov/39993789/). *Clinical genetics*. [Case Report / Case Series]
Winkley SR (2025). [PMID: 40049412](https://pubmed.ncbi.nlm.nih.gov/40049412/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Gverdtsiteli S (2025). [PMID: 41153423](https://pubmed.ncbi.nlm.nih.gov/41153423/). *Genes*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:226750

Orphanet

European rare disease database

Orphanet:1946

GARD

Genetic and Rare Diseases Info Center

GARD:3128

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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amelocerebrohypohidrotic syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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