Chudley-McCullough Syndrome

Alternative Names

  • CMCS
  • Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts
  • Deafness, Autosomal Recessive 82
  • DFNB82
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

604213

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

1p13.3

Description

Chudley-McCullough Syndrome is an extremely rare condition characterized by the association of sensorineural hearing loss with partial corpus callosal agenesis and interhemispheric arachnoid cysts.  The sensorineural hearing loss is profound, bilateral, and progressive.  Brain abnormalities associated with the condition include hydrocephalus, agenesis of the corpus callosum, frontal polymicrogyria enlarged cysterna magna with cerebellar dysplasia, and nodular heterotopias. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604213.1.1PalestineFemaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 Parents and 2 unaffe...
604213.1.2PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 Sibling of 604213.1....
604213.1.3PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 Sibling of 604213.1....
604213.1.4PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 First cousin of 6042...
604213.1.5PalestineFemaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 First cousin of 6042...
604213.1.6PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 First cousin of 6042...
604213.1.7PalestineMaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.379C>THomozygousAutosomal, RecessiveShahin et al. 2010; Walsh et al. 2010 First cousin once re...
604213.2.1YemenMaleYesYes Bilateral sensorineural hearing impairme...NM_013296.4:c.1055C>AHomozygousAutosomal, RecessiveHamzeh et al. 2016
604213.2.2YemenMaleYesYes Prelingual sensorineural hearing impairm...NM_013296.4:c.1055C>AHomozygousAutosomal, RecessiveHamzeh et al. 2016 Brother of 604213.2....

Other Reports

Lebanon

Alrashdi et al (2011) described a Lebanese girl child with Chudley-McCullough Syndrome. The patient was born to consanguineous parents and presented with sensorineural deafness. MRI showed aganesis/hypoplasia of corpus callosum, large cisterna magna, and an arachnoid cyst. 

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