Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal Recessive
1p13.3
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.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604213.1.1 | Palestine | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment  | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | Parents and 2 unaffe... |
| 604213.1.2 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | Sibling of 604213.1.... |
| 604213.1.3 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | Sibling of 604213.1.... |
| 604213.1.4 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | First cousin of 6042... |
| 604213.1.5 | Palestine | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | First cousin of 6042... |
| 604213.1.6 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | First cousin of 6042... |
| 604213.1.7 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | NM_013296.4:c.379C>T | Homozygous | Autosomal, Recessive | Shahin et al. 2010; Walsh et al. 2010 | First cousin once re... |
| 604213.2.1 | Yemen | Male | Yes | Yes | Bilateral sensorineural hearing impairme... Bilateral sensorineural hearing impairment; Partial agenesis of the corpus callosum; Arachnoid cyst; Asthma; | NM_013296.4:c.1055C>A | Homozygous | Autosomal, Recessive | Hamzeh et al. 2016 | |
| 604213.2.2 | Yemen | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment; Hypopigmented skin patches; Partial agenesis of the corpus callosum; Arachnoid cyst; | NM_013296.4:c.1055C>A | Homozygous | Autosomal, Recessive | Hamzeh et al. 2016 | Brother of 604213.2.... |
| 604213.3 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment | NM_013296.4:c.1055C>A | Homozygous | Tlili et al. 2024 |
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.