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
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ICD-10: |
G40.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0011073) | Abnormality of dental color | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000705) | Amelogenesis imperfecta | 25 / 7739 | ||||
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(HPO:0000682) | Abnormality of dental enamel | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | rare [HPO:skoehler] | 853 / 7739 | |||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0002521) | Hypsarrhythmia | 43 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002376) | Developmental regression | rare [HPO:skoehler] | 74 / 7739 | |||
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(HPO:0200134) | Epileptic encephalopathy | 42 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | EEG shows multifocal discharges | 1 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(OMIM) | Lack of speech development | 20 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
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(OMIM) | Poor communication | 2 / 7739 | ||||
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(OMIM) | Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) | 1 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |