Johnson–Munson syndrome
Johnson–Munson syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly, short stature, and distinctive facial features. The syndrome was first described by Johnson and Munson in 1989.
Etymology[edit | edit source]
The syndrome is named after the two doctors, Johnson and Munson, who first described the condition in 1989.
Symptoms and Signs[edit | edit source]
The main symptoms of Johnson–Munson syndrome include:
- Intellectual disability
- Microcephaly (small head size)
- Short stature
- Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin
Causes[edit | edit source]
Johnson–Munson syndrome is a genetic disorder. It is caused by mutations in a specific gene, although the exact gene is not yet known.
Diagnosis[edit | edit source]
Diagnosis of Johnson–Munson syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may also be used to confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Johnson–Munson syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include physical therapy, special education, and other supportive services.
Prognosis[edit | edit source]
The prognosis for individuals with Johnson–Munson syndrome varies depending on the severity of the symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.
See also[edit | edit source]
References[edit | edit source]
Johnson–Munson syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD