Gerodermia osteodysplastica

Gerodermia osteodysplastica is a rare genetic disorder characterized by skin laxity and early onset osteoporosis. The condition is also associated with a characteristic facial appearance, growth retardation, and intellectual disability in some cases. It is caused by mutations in the GORAB gene and is inherited in an autosomal recessive manner.

Signs and Symptoms

The primary symptoms of gerodermia osteodysplastica include:

• Skin laxity, particularly on the hands, feet, and face
• Early onset osteoporosis, leading to frequent fractures
• Characteristic facial appearance, including a beaked nose and prominent eyes
• Growth retardation
• Intellectual disability (in some cases)

Causes

Gerodermia osteodysplastica is caused by mutations in the GORAB gene. This gene provides instructions for making a protein that is involved in the process of Golgi trafficking. Mutations in the GORAB gene disrupt this process, leading to the symptoms of gerodermia osteodysplastica.

Diagnosis

Diagnosis of gerodermia osteodysplastica is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the GORAB gene.

Treatment

There is currently no cure for gerodermia osteodysplastica. Treatment is symptomatic and supportive, and may include physical therapy for mobility issues, and management of fractures and other complications of osteoporosis.

Prognosis

The prognosis for individuals with gerodermia osteodysplastica varies. Some individuals may have a normal lifespan with mild symptoms, while others may experience significant disability due to fractures and other complications.

See Also

• Genetic disorder
• Osteoporosis
• Golgi apparatus

Gerodermia osteodysplastica Resources
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