Eiken syndrome

Eiken syndrome is a very rare genetic disorder characterized by skeletal abnormalities, delayed bone age, and growth retardation. The syndrome was first described by Eiken in 1969 and has since been reported in a few families worldwide.

Symptoms

The main symptoms of Eiken syndrome include:

• Delayed bone age
• Growth retardation
• Skeletal abnormalities such as platyspondyly (flattened vertebrae), delayed ossification of the pubic bone, and metaphyseal dysplasia (abnormal bone development at the wide ends of long bones)

Causes

Eiken syndrome is caused by mutations in the PDDR gene. This gene is involved in the development and maintenance of bone and cartilage. Mutations in the PDDR gene disrupt the normal development of bone and cartilage, leading to the symptoms of Eiken syndrome.

Diagnosis

Diagnosis of Eiken syndrome is based on the clinical symptoms and confirmed by genetic testing. Radiographic examination can reveal the characteristic skeletal abnormalities.

Treatment

There is currently no cure for Eiken syndrome. Treatment is symptomatic and supportive, focusing on managing the skeletal abnormalities and growth retardation.

Prognosis

The prognosis for individuals with Eiken syndrome varies. Some individuals may have mild symptoms and normal life expectancy, while others may have severe skeletal abnormalities and growth retardation.

See also

• Genetic disorder
• Bone age
• Platyspondyly
• Delayed ossification
• Metaphyseal dysplasia

References

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