EEM syndrome

Autorecessive

EEM syndrome (Ectodermal dysplasia, Ectrodactyly, and Macular dystrophy) is a rare genetic disorder characterized by a combination of ectodermal dysplasia, ectrodactyly, and macular dystrophy. This syndrome affects multiple systems in the body, primarily impacting the skin, hair, nails, teeth, and eyes.

Signs and Symptoms

Individuals with EEM syndrome typically present with the following features:

• Ectodermal dysplasia: This includes abnormalities in the development of the skin, hair, nails, and teeth. Common manifestations are sparse hair, abnormal or missing teeth, and thin or brittle nails.
• Ectrodactyly: Also known as split hand/foot malformation, this condition involves the absence of one or more central digits on the hands and/or feet, leading to a claw-like appearance.
• Macular dystrophy: This is a progressive eye disorder that affects the macula, the central part of the retina responsible for detailed vision. It can lead to vision loss over time.

Genetics

EEM syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in EEM syndrome have not been definitively identified, but research is ongoing to determine the genetic basis of the condition.

Diagnosis

Diagnosis of EEM syndrome is based on clinical evaluation, family history, and the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to identify carriers of the mutation.

Management

There is no cure for EEM syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Dental care: Regular dental check-ups and interventions to address missing or abnormal teeth.
• Dermatological care: Treatment for skin abnormalities and protection against skin infections.
• Ophthalmological care: Regular eye examinations to monitor and manage macular dystrophy.
• Orthopedic care: Surgical and non-surgical interventions to address ectrodactyly and improve hand and foot function.

Related Pages

• Ectodermal dysplasia
• Ectrodactyly
• Macular dystrophy
• Genetic disorder
• Autosomal recessive