Rosenberg–Chutorian syndrome

Rosenberg–Chutorian syndrome is a rare neurological disorder characterized by the triad of peripheral neuropathy, pigmentary retinopathy, and alopecia. It is also known as Alopecia-neurological defects-endocrinopathy syndrome and Alopecia-mental retardation syndrome 3.

Clinical Features

The syndrome is characterized by three main features: peripheral neuropathy, pigmentary retinopathy, and alopecia.

• Peripheral neuropathy is a condition that affects the nerves outside the brain and spinal cord. It can cause weakness, numbness, and pain, usually in the hands and feet.

• Pigmentary retinopathy is a degenerative disease of the retina that can lead to vision loss.

• Alopecia is a condition characterized by hair loss.

Etiology

The exact cause of Rosenberg–Chutorian syndrome is unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner.

Diagnosis

Diagnosis of Rosenberg–Chutorian syndrome is based on the presence of the characteristic triad of symptoms. Genetic testing may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Rosenberg–Chutorian syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the disorder.

Prognosis

The prognosis for individuals with Rosenberg–Chutorian syndrome varies depending on the severity of the symptoms.

See Also

• List of neurological conditions and disorders
• List of genetic disorders
• List of rare diseases

NIH genetic and rare disease info

• NIH info on Rosenberg–Chutorian syndrome

Rosenberg–Chutorian syndrome is a rare disease.

Rosenberg–Chutorian syndrome Resources
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