EEM syndrome

EEM Syndrome

EEM syndrome (pronunciation: /iːm/), also known as Ectrodactyly-Ectodermal dysplasia-Mental retardation syndrome, is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and mental retardation.

Etymology

The term 'EEM syndrome' is an acronym derived from the three main features of the condition: Ectrodactyly, Ectodermal dysplasia, and Mental retardation.

Definition

EEM syndrome is a rare genetic disorder that affects multiple parts of the body. The syndrome is characterized by the following three main features:

• Ectrodactyly - A condition where there is a deficiency or absence of one or more central digits of the hand or foot.
• Ectodermal dysplasia - A group of syndromes deriving from abnormalities of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands.
• Mental retardation - A term used when there are limitations in mental functioning and in skills such as communicating, taking care of oneself, and social skills.

Symptoms

The symptoms of EEM syndrome can vary greatly among affected individuals. Some common symptoms include abnormal development of the hands and feet, skin abnormalities, hair abnormalities, dental abnormalities, and intellectual disability.

Diagnosis

Diagnosis of EEM syndrome is based on clinical examination, detailed patient history, and may be confirmed through genetic testing.

Treatment

Treatment of EEM syndrome is symptomatic and supportive, focusing on the specific symptoms in each individual. This may include physical therapy, occupational therapy, and special education services for those with intellectual disability.

Related Terms

• Genetic disorder
• Ectodermal dysplasia
• Ectrodactyly
• Mental retardation

External links

• Medical encyclopedia article on EEM syndrome
• Wikipedia's article - EEM syndrome

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