Chudley-Mccullough syndrome

Chudley-McCullough syndrome is a rare neurological disorder characterized by severe to profound sensorineural hearing loss and specific abnormalities in the structure of the brain. The syndrome was first described in the medical literature by Chudley and McCullough in 1995.

Symptoms and Signs

The primary symptoms of Chudley-McCullough syndrome include severe to profound sensorineural hearing loss, which is present from birth. Affected individuals may also have abnormalities in the structure of the brain, including gyral abnormalities, which are unusual folds in the brain's surface. Other symptoms may include intellectual disability, seizures, and hydrocephalus, which is an accumulation of fluid in the brain.

Causes

Chudley-McCullough syndrome is caused by mutations in the GPC1 gene. This gene provides instructions for making a protein that is involved in the growth and development of nerve cells in the brain. Mutations in the GPC1 gene disrupt the normal development of the brain and the inner ear, leading to the characteristic features of Chudley-McCullough syndrome.

Diagnosis

Diagnosis of Chudley-McCullough syndrome is based on the presence of characteristic symptoms, such as sensorineural hearing loss and specific brain abnormalities. Genetic testing can confirm a diagnosis by identifying a mutation in the GPC1 gene.

Treatment

There is currently no cure for Chudley-McCullough syndrome. Treatment is symptomatic and supportive, and may include hearing aids or cochlear implants for hearing loss, and medications to manage seizures.

See Also

• Sensorineural hearing loss
• Neurological disorder
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Chudley-Mccullough syndrome

Chudley-Mccullough syndrome is a rare disease.

Chudley-Mccullough syndrome Resources
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