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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
There is currently no cure for Rosenberg–Chutorian syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the disorder.
Prognosis[edit | edit source]
The prognosis for individuals with Rosenberg–Chutorian syndrome varies depending on the severity of the symptoms.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Rosenberg–Chutorian syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
