Kohlschütter-Tönz syndrome
MeSH: C537213ORPHA: 1946
Overview
rare inherited human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Kohlschütter-Tönz syndrome, sourced from HPO and Orphanet clinical annotations.
HydrocephalusHypohidrosisSeizureSpasticityMental deteriorationEEG abnormalityDevelopmental regressionShort statureYellow-brown discoloration of the teethAbnormality of dental colorAbnormal dental enamel morphologyAmelogenesis imperfectaDementiaSevere intellectual disability
Classification & Codes
MeSH Code
C537213Orphanet Code
ORPHA:1946Kohlschütter-Tönz syndrome
| MeSH | C537213 |
| Orphanet | ORPHA:1946 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO