Amelo-cerebro-hypohidrotic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KOHLSCHUTTER SYNDROME
EPILEPSY AND YELLOW TEETH
EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA
KTZS
Kohlschutter-Tonz syndrome
Epilepsy - dementia - amelogenesis imperfecta
Number of Symptoms 28
OrphanetNr: 1946
OMIM Id: 226750
ICD-10: G40.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 39 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
(HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
2
(HPO:0000705) Amelogenesis imperfecta 25 / 7739
3
(HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
4
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
5
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
6
(HPO:0001257) Spasticity 251 / 7739
7
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0000726) Dementia 131 / 7739
10
(HPO:0010864) Intellectual disability, severe 120 / 7739
11
(HPO:0002521) Hypsarrhythmia 43 / 7739
12
(HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
13
(HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
14
(HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
15
(HPO:0200134) Epileptic encephalopathy 42 / 7739
16
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
17
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
18
(HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) EEG shows multifocal discharges 1 / 7739
21
(HPO:0002119) Ventriculomegaly 253 / 7739
22
(HPO:0003828) Variable expressivity 130 / 7739
23
(HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
24
(OMIM) Lack of speech development 20 / 7739
25
(HPO:0002059) Cerebral atrophy 171 / 7739
26
(OMIM) Poor communication 2 / 7739
27
(OMIM) Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 1 / 7739
28
(HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype ...
Clinical Description OMIM Kohlschutter et al. (1974) described a family of farmers living in a valley of central Switzerland in which 5 brothers developed seizures between ages 11 months and 4 years. The children died after progressive mental deterioration at ages ...
Molecular genetics OMIM In affected members of 3 unrelated families with Kohlschutter-Tonz syndrome, Schossig et al. (2012) identified homozygous or compound heterozygous mutations in the ROGDI gene (614574.0001-614574.0004). The mutation in the first family (Schossig et al., 2007) was identified by ...