Elejalde syndrome
Elejalde Syndrome
Elejalde Syndrome (pronunciation: eh-le-hal-deh syndrome) is a rare genetic disorder characterized by a range of symptoms including neurological abnormalities, skin hyperpigmentation, and hair abnormalities.
Etymology
The syndrome is named after Dr. Gerardo Elejalde, a Colombian pediatrician who first described the condition in 1978.
Symptoms and Signs
Elejalde Syndrome is characterized by three main symptoms: neurological abnormalities, skin hyperpigmentation, and hair abnormalities.
- Neurological abnormalities in Elejalde Syndrome can include mental retardation, seizures, and hypotonia (reduced muscle tone).
- Skin hyperpigmentation refers to areas of the skin that are darker than the individual's normal skin color. This is due to an excess of melanin, the pigment that gives skin, hair, and eyes their color.
- Hair abnormalities can include silver or white hair from birth, known as poliosis.
Causes
Elejalde Syndrome is a genetic disorder, meaning it is caused by abnormalities in the individual's genes. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for a child to be affected.
Diagnosis
Diagnosis of Elejalde Syndrome is based on the presence of the characteristic symptoms and can be confirmed through genetic testing.
Treatment
There is currently no cure for Elejalde Syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for the individual.
See Also
References
- Elejalde BR. (1978) Neuroectodermal melanolysosomal disease. Journal of Medical Genetics. 15(5):340-6.
External links
- Medical encyclopedia article on Elejalde syndrome
- Wikipedia's article - Elejalde syndrome
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