Eiken syndrome

A rare genetic disorder affecting bone development

Overview

Eiken syndrome is a rare genetic disorder characterized by abnormal bone development. It is classified as an autosomal recessive condition, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the disorder.

Genetic Basis

Diagram of autosomal recessive inheritance.

Eiken syndrome is caused by mutations in the PTH1R gene, which encodes the parathyroid hormone 1 receptor. This receptor plays a crucial role in the regulation of bone development and calcium homeostasis. Mutations in this gene disrupt normal bone growth and remodeling, leading to the clinical features observed in affected individuals.

Clinical Features

Individuals with Eiken syndrome typically present with delayed ossification of the epiphyses, which are the ends of long bones. This delay can lead to short stature and other skeletal abnormalities. Additional features may include:

• Delayed bone age
• Craniofacial dysmorphism
• Joint laxity

Diagnosis

The diagnosis of Eiken syndrome is based on clinical evaluation, family history, and genetic testing. Radiographic imaging can reveal characteristic skeletal abnormalities, such as delayed ossification and abnormal bone shapes. Genetic testing can confirm the presence of mutations in the PTH1R gene.

Management

There is currently no cure for Eiken syndrome, and management focuses on symptomatic treatment and supportive care. This may include:

• Physical therapy to improve mobility and strength
• Orthopedic interventions to address skeletal deformities
• Regular monitoring of growth and development

Prognosis

The prognosis for individuals with Eiken syndrome varies depending on the severity of the condition and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.

Related pages

• Genetic disorders
• Bone development
• Autosomal recessive inheritance