Chudley-Mccullough syndrome

Also Known As:

Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts

Networked: 5 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Chudley-Mccullough syndrome: 5
Nervous System Diseases: 14178
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Agenesis of Corpus Callosum: 54
    - Chudley-Mccullough syndrome: 5
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Chudley-Mccullough syndrome: 5
Neoplasms: 1324753
- Cysts: 25757
  - Arachnoid Cysts: 231
    - Chudley-Mccullough syndrome: 5
- Neoplasms by Site: 4
  - Nervous System Neoplasms: 235
    - Central Nervous System Neoplasms: 818
      - Central Nervous System Cysts: 188
        Arachnoid Cysts: 231
        Chudley-Mccullough syndrome: 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Central Nervous System Cysts: 188
      - Arachnoid Cysts: 231
        Chudley-Mccullough syndrome: 5
    - Agenesis of Corpus Callosum: 54
      - Chudley-Mccullough syndrome: 5

Related Diseases

1.	Polymicrogyria
2.	Arachnoid Cysts (Intracranial Arachnoid Cysts)
3.	Sensorineural Hearing Loss
4.	Deafness (Deaf Mutism)

Experts

1.	Barrera, Shelby: 1 article (07/2022)
2.	Carron, Jeffrey: 1 article (07/2022)
3.	Elkins, Alex: 1 article (07/2022)
4.	Grillis, Ashley: 1 article (07/2022)
5.	Kalil, Grant: 1 article (07/2022)
6.	Blauen, Aglaë: 1 article (01/2021)
7.	Deggouj, Naima: 1 article (01/2021)
8.	Dumitriu, Dana: 1 article (01/2021)
9.	Jansen, Anna C: 1 article (01/2021)
10.	Leventer, Richard J: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chudley-Mccullough syndrome:

GTP-Binding Proteins (G-Protein)IBA

06/01/2016 - "Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome (CMS), which is characterized by profound congenital sensorineural hearing loss with various abnormalities in the brain. "
01/01/2021 - "Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene, is characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial) agenesis of the corpus callosum, cerebellar dysplasia, arachnoid cysts, frontal subcortical heterotopia, and midline polymicrogyria. "

Therapies and Procedures

1.	Hearing Aids (Hearing Aid) 02/01/2012 - "While early support with hearing aids may lead to improved language and cognitive outcome, shunting of ventricular dilatation is not indicated in the Chudley-McCullough syndrome."
2.	Cochlear Implantation 07/01/2022 - "The purpose of this report is to describe a case of bilateral cochlear implantation (CI) in a pediatric patient with Chudley-McCullough Syndrome (CMS). " 07/01/2022 - "Cochlear implantation in a 16-month-old with Chudley-McCullough Syndrome."
3.	Cochlear Implants (Cochlear Implant) 01/01/2019 - "Cochlear implant in a subject affected by the Chudley-McCullough Syndrome."