Chudley-McCullough syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS DFNB82 DEAFNESS, AUTOSOMAL RECESSIVE 82 CMCS |
| Number of Symptoms | 24 |
| OrphanetNr: | 314597 |
| OMIM Id: |
604213
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| ICD-10: |
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| MedDRA: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic syndrome with a central nervous system malformation as major feature
-Rare genetic disease Other syndrome with a central nervous system malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0002700) | Large foramen magnum | 6 / 7739 | ||||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0001256) | Intellectual disability, mild | rare [HPO:skoehler] | 141 / 7739 | |||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(OMIM) | Focal cerebellar dysplasia | 1 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0007033) | Cerebellar dysplasia | 13 / 7739 | ||||
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(OMIM) | Cerebellar hypoplasia due to enlarged foramen magnum | 1 / 7739 | ||||
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(OMIM) | Brain MRI shows hypoplasia of the corpus callosum | 1 / 7739 | ||||
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(OMIM) | Subcortical nodular grey matter heterotopia | 1 / 7739 | ||||
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(HPO:0002281) | Gray matter heterotopias | 4 / 7739 | ||||
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(OMIM) | Obstruction of the foramen of Monro (variable) | 1 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0001334) | Communicating hydrocephalus | 32 / 7739 | ||||
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(OMIM) | Hearing loss, sensorineural, severe to profound | 3 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(OMIM) | Normal psychomotor development in most | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001338) | Partial agenesis of the corpus callosum | 22 / 7739 | ||||
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(HPO:0006989) | Dysplastic corpus callosum | 7 / 7739 | ||||
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(HPO:0100702) | Arachnoid cyst | 15 / 7739 | ||||
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(HPO:0002126) | Polymicrogyria | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients ... |
| Clinical Description OMIM |
Chudley et al. (1997) reported a Canadian Mennonite family in which a brother and sister had hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. The parents were second cousins. Autosomal recessive inheritance ... |
| Molecular genetics OMIM |
In affected members of a consanguineous Palestinian family with profound, apparently nonsyndromic hearing loss, designated DFNB82, Walsh et al. (2010) identified a homozygous mutation in the GPSM2 gene (R127X; 609245.0001). All unaffected parents were heterozygous for the mutation. ... |