Atelosteogenesis type I

Atelosteogenesis Type I

Diagram of autosomal dominant inheritance pattern

Atelosteogenesis Type I is a rare genetic disorder characterized by skeletal abnormalities. It is one of the types of atelosteogenesis, which are a group of disorders that affect bone development. Atelosteogenesis Type I is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Clinical Features

Individuals with Atelosteogenesis Type I typically present with severe skeletal dysplasia. The clinical features include:

• Short limbs (rhizomelic shortening)
• Narrow chest
• Abnormalities of the spine
• Cleft palate
• Clubfoot

These features are usually apparent at birth or during prenatal ultrasound examinations.

Genetic Basis

Atelosteogenesis Type I is caused by mutations in the FLNB gene, which provides instructions for making a protein called filamin B. This protein is involved in the development and maintenance of the cytoskeleton, which is the structural framework that helps cells maintain their shape and internal organization.

Diagnosis

Diagnosis of Atelosteogenesis Type I is based on clinical evaluation, radiographic findings, and genetic testing. Prenatal diagnosis may be possible through ultrasound and genetic testing if there is a known family history of the disorder.

Management

There is no cure for Atelosteogenesis Type I, and management is primarily supportive. Treatment may involve:

• Orthopedic surgery to address skeletal abnormalities
• Respiratory support due to chest abnormalities
• Physical therapy to improve mobility

Prognosis

The prognosis for individuals with Atelosteogenesis Type I is generally poor. Many affected individuals do not survive past infancy due to respiratory complications. However, the severity of the condition can vary, and some individuals may live longer with appropriate medical care.

Related Pages

• Skeletal dysplasia
• Autosomal dominant disorder
• Genetic testing