Spondyloepimetaphyseal dysplasia, Pakistani type

A rare genetic disorder affecting bone growth

Spondyloepimetaphyseal dysplasia, Pakistani type is a rare genetic disorder characterized by abnormalities in bone growth, particularly affecting the spine, epiphyses, and metaphyses. This condition is part of a group of disorders known as spondyloepimetaphyseal dysplasia (SEMD), which are distinguished by their specific patterns of skeletal abnormalities.

Genetics

Autosomal recessive inheritance pattern

Spondyloepimetaphyseal dysplasia, Pakistani type, is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene mutation responsible for this type of SEMD has been identified in the PCYT1A gene, which plays a crucial role in phospholipid metabolism.

Clinical Features

Individuals with this condition typically present with short stature due to disproportionate shortening of the limbs. The spine may exhibit kyphoscoliosis, a combination of kyphosis and scoliosis, leading to a curved posture. Other skeletal abnormalities include:

• Platyspondyly - Flattening of the vertebral bodies.
• Metaphyseal dysplasia - Abnormal development of the metaphyses, the regions of bone growth near the ends of long bones.
• Epiphyseal dysplasia - Abnormal development of the epiphyses, the ends of long bones.

Diagnosis

Diagnosis of Spondyloepimetaphyseal dysplasia, Pakistani type, is based on clinical evaluation, family history, and radiographic findings. Radiography can reveal characteristic skeletal abnormalities, such as platyspondyly and metaphyseal irregularities. Genetic testing can confirm the diagnosis by identifying mutations in the PCYT1A gene.

Management

There is currently no cure for Spondyloepimetaphyseal dysplasia, Pakistani type. Management focuses on addressing symptoms and improving quality of life. This may include:

• Physical therapy to improve mobility and strengthen muscles.
• Orthopedic surgery to correct severe skeletal deformities.
• Regular monitoring by a multidisciplinary team to manage complications.

Prognosis

The prognosis for individuals with this condition varies depending on the severity of the skeletal abnormalities and associated complications. With appropriate management, individuals can lead fulfilling lives, although they may face challenges related to mobility and physical activity.

Related pages

• Spondyloepimetaphyseal dysplasia
• Autosomal recessive disorder
• Genetic disorder