Sponastrime dysplasia

A rare genetic disorder affecting bone development

Sponastrime dysplasia is a rare genetic disorder characterized by abnormal bone development, leading to dwarfism and other skeletal anomalies. It is inherited in an autosomal recessive pattern.

Genetics

Diagram of autosomal recessive inheritance

Sponastrime dysplasia is caused by mutations in specific genes that are involved in the development and maintenance of cartilage and bone. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected individual are typically carriers, possessing one copy of the mutated gene but not exhibiting any symptoms themselves.

Clinical Features

Individuals with sponastrime dysplasia typically present with short stature due to disproportionate shortening of the limbs. Other common features include:

• Scoliosis
• Kyphosis
• Platyspondyly (flattened vertebrae)
• Metaphyseal dysplasia
• Joint laxity

Facial features may include a prominent forehead, depressed nasal bridge, and midface hypoplasia.

Diagnosis

Diagnosis of sponastrime dysplasia is based on clinical evaluation, family history, and radiographic findings. X-rays typically reveal characteristic skeletal abnormalities such as platyspondyly and metaphyseal changes. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Management

There is no cure for sponastrime dysplasia, and management focuses on addressing symptoms and improving quality of life. This may include:

• Physical therapy to improve mobility and strength
• Orthopedic surgery to correct skeletal deformities
• Regular monitoring for complications such as spinal stenosis

Prognosis

The prognosis for individuals with sponastrime dysplasia varies depending on the severity of the skeletal abnormalities and associated complications. With appropriate management, many individuals can lead active lives.

Related pages

• Dwarfism
• Skeletal dysplasia
• Autosomal recessive disorder