Eiken syndrome

Eiken Syndrome

Eiken Syndrome (pronounced: /ˈaɪkən/), is a rare genetic disorder characterized by skeletal abnormalities. The syndrome was first described by the Norwegian physician, J. Eiken, hence the name.

Etymology

The term "Eiken Syndrome" is derived from the name of the Norwegian physician, J. Eiken, who first described the condition. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Definition

Eiken Syndrome is a rare genetic disorder that primarily affects the skeletal system. It is characterized by delayed bone age, osteosclerosis of the trabecular bone, and cortical thickening of the long bone diaphyses.

Symptoms

The primary symptoms of Eiken Syndrome include:

• Delayed bone age
• Osteosclerosis of the trabecular bone
• Cortical thickening of the long bone diaphyses

Other symptoms may include short stature, joint pain, and limited joint mobility.

Causes

Eiken Syndrome is caused by mutations in the PDDR gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and cartilage.

Diagnosis

Diagnosis of Eiken Syndrome is based on clinical examination, patient history, and radiographic findings. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Eiken Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and orthopedic interventions.

Related Terms

• Genetic disorder
• Skeletal system
• Osteosclerosis
• PDDR gene
• Physical therapy

External links

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

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