Spondyloepiphyseal dysplasia, congenital type

Spondyloepiphyseal dysplasia, congenital type
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Short stature, skeletal abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Spondyloepiphyseal dysplasia, congenital type (SEDc) is a rare genetic disorder characterized by skeletal abnormalities that affect the spine and the epiphyses of long bones. This condition is present at birth and is part of a group of disorders known as spondyloepiphyseal dysplasias.

Etiology

SEDc is caused by mutations in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. Type II collagen is essential for the normal development of cartilage and the formation of the skeleton. Mutations in this gene lead to the production of abnormal collagen, resulting in the characteristic skeletal abnormalities seen in SEDc.

Clinical Features

Individuals with SEDc typically present with short stature and a variety of skeletal abnormalities. Common features include:

• Short trunk dwarfism
• Abnormal curvature of the spine, such as kyphoscoliosis
• Flattened vertebrae (platyspondyly)
• Delayed ossification of the epiphyses
• Joint pain and stiffness
• Osteoarthritis
• Coxa vara, a deformity of the hip joint

Other associated features may include:

• Cleft palate
• Hearing loss
• Myopia
• Retinal detachment

Diagnosis

Diagnosis of SEDc is based on clinical evaluation, radiographic findings, and genetic testing. Radiographs typically show characteristic changes in the spine and epiphyses. Genetic testing can confirm the diagnosis by identifying mutations in the COL2A1 gene.

Management

There is no cure for SEDc, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Physical therapy to improve mobility and reduce joint pain
• Orthopedic interventions, such as bracing or surgery, to address skeletal deformities
• Regular monitoring for complications such as retinal detachment and hearing loss

Prognosis

The prognosis for individuals with SEDc varies depending on the severity of the condition and the presence of complications. With appropriate management, many individuals can lead active lives, although they may experience limitations due to skeletal abnormalities and associated complications.

Also see

• Spondyloepiphyseal dysplasia
• Achondroplasia
• Osteogenesis imperfecta
• Marfan syndrome