Eem syndrome
Eem Syndrome is a rare genetic disorder characterized by epilepsy, ectrodactyly, and mental retardation. The syndrome is named after the three main features of the disorder. It is also known as EEC syndrome or EEC1.
Etiology[edit | edit source]
Eem Syndrome is caused by mutations in the TP63 gene, which provides instructions for making a protein that is crucial for the development and maintenance of various tissues, particularly the epidermis (the outer layer of the skin). The TP63 gene mutations that cause Eem Syndrome result in the production of a protein with reduced or altered function.
Symptoms[edit | edit source]
The primary symptoms of Eem Syndrome include:
- Epilepsy: This is a neurological disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations, and sometimes loss of awareness.
- Ectrodactyly: This is a condition in which the central digits are missing, and the hand is cleft where the metacarpal of the finger should be. This condition is also known as "lobster-claw syndrome".
- Mental Retardation: This is a term used when there are limits to a person’s ability to learn at an expected level and function in daily life.
Diagnosis[edit | edit source]
Diagnosis of Eem Syndrome is based on clinical examination and confirmed by genetic testing. Genetic testing can identify mutations in the TP63 gene.
Treatment[edit | edit source]
There is currently no cure for Eem Syndrome. Treatment is symptomatic and supportive. Physical therapy and occupational therapy may benefit some patients. Regular follow-up visits to a physician are recommended to monitor the patient's condition.
Prognosis[edit | edit source]
The prognosis for individuals with Eem Syndrome varies. Some individuals may have mild symptoms, while others may have severe symptoms. The life expectancy of individuals with Eem Syndrome is typically normal, although the disorder can lead to life-threatening complications in some cases.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Eem syndrome is a rare disease.
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