Spondyloepiphyseal Dysplasia Congenita - Causes, Symptoms, and Treatment

Introduction

Spondoepiphyseal dysplasia congenita is a rare congenital disorder of bone growth. As the name signifies, spondyloepiphyseal affects the spine and the end of the long bones, called epiphyses, and congenital signifies that the condition is present from birth. This is a condition in which bone growth is affected and causes shortening of bones. The long bones, such as arms, legs, and spine, are of small size, whereas the head, feet, and hands are of normal size. The vision and hearing also get impaired. In addition, the muscle tone is impaired, and ligaments are loose. Early detection of the condition is essential for implementing medical interventions. Surgical interventions are recommended to manage skeletal deformities. The understanding of rare genetic disorders helps in accurate diagnosis and treatment. The article highlights spondyloepiphyseal dysplasia congenita, its causes, symptoms, diagnosis, and treatment.

What Are the Causes of Spondyloepiphyseal Dysplasia Congenita?

The congenital disorder affects the growth and development of long bones and spine. The main cause of spondyloepiphyseal dysplasia congenita is genetic mutations. The causes of the condition are as follows:

• COL2A1 Gene Mutations: The main reason for the condition is the mutation in the gene COL2A1. The protein is present in the vitreous gel of the eyeball and cartilage. The gene is also derived from collagen type 2. Collagen type 2 is essential for the growth of the long bones. Mutation in the COL2A1 gene affects the growth and development of long bones.
• COLA11A1 and COLA11A2 Gene Mutations: The mutation in the genes COLA11A1 and COLA11A2 also affect the growth and development of cartilage and bones. These genes encode collagen.
• ACAN Gene Mutation: The gene ACAN (aggrecan) is involved in the case of osteochondrodysplasia. This gene is involved in the cartilage formation. The ACAN gene mutation can affect normal cartilage development.

What Are the Risk Factors for Spondyloepiphyseal Dysplasia Congenita?

The risk factors for spondyloepiphyseal dysplasia congenita are as follows:

• Genetic Inheritance: The inheritance pattern for the condition is autosomal dominant. There are some chances of transferring the mutated gene to their children.
• Family History: A history of the disease increases the risk of transferring the condition.
• Advanced Paternal Age: Some studies suggest that people with advanced paternal age and skeletal dysplasia are at higher risk of certain genetic mutations.

What Are the Signs and Symptoms of Spondyloepiphyseal Dysplasia Congenita?

The condition mainly affects the spinal region and the end of the long bones. The common signs and symptoms of spondyloepiphyseal dysplasia congenita are as follows:

• Short Stature: The condition affects the growth of newborns' long bones, leading to short stature. The growth of legs, arms, and head are affected, leading to short stature. The trunk and extremities of the affected individual are also shortened.
• Skeletal Deformities: The affected individual may have skeletal deformities, such as a flattened face, irregularity in the shape of the vertebral column, abnormal spine rounding (kyphosis), and abnormal spine curvature (scoliosis).
• Joint Abnormalities: The joints associated with long bones are stiff and affected, such as hip bones leading to hip contractures (where the end of the bones are inward angulated). The inward angulation of hip bones is called varus hips, and of knees are called varus or bowed knees.
• Musculoskeletal Issues: The person may experience joint and hip pain.
• Muscle and Joint Problems: There can be loosened ligaments and poor muscle tone.
• Foot Anomalies: The associated foot anomalies can be flat and club feet.
• Walking Issues: The affected person is unable to walk, and the affected gait is called a waddling gait.
• Craniofacial Anomalies: The anomalies related to craniofacial are cleft palate and wide-opened eyes.
• Respiratory Problem: The infant may experience respiratory issues, such as breathing difficulties due to a small chest or abnormal chest.
• Vision Issues: The person may experience vision issues, such as decreased vision due to abnormal collagen gene mutation in the eye's vitreous gel.
• Hearing Problems: The associated hearing issues can be deafness or hearing deficits.
• Digestive Issues: The belly of the affected person can be toward the outside, just like pregnant women, and there can be an inguinal hernia.

How Is Spondyloepiphyseal Dysplasia Congenita Diagnosed?

Diagnosing spondyloepiphyseal dysplasia congenita involves genetic testing, clinical examination, and radiographic imaging. The diagnostic tests of the condition are described below:

• Clinical Examination: The first step in diagnosing the condition involves a clinical examination of the patient.
• Radiographic Imaging: The radiographic imaging tests include, X-rays to check any skeletal abnormalities. The irregularity in the long bones, flattened face, short stature, abnormality in the shape of vertebrae, and flattened vertebral bodies may help confirm the condition. On X-rays, the vertebrae can be pear-shaped. magnetic resonance imaging (MRI) and computed tomography (CT) are recommended to see detailed images of the internal structures or organs.
• Genetic Testing: This testing is associated with COL2A1 gene mutations. It involves the analysis of deoxyribose nucleic acid (DNA) to find specific gene mutations.

How Is Spondyloepiphyseal Dysplasia Congenita Treated?

The healthcare provider may provide medical interventions and supportive measures to optimize functions. The common treatment approaches to manage spondyloepiphyseal dysplasia are as follows:

• Physical Therapy: The healthcare provider may recommend physical therapy to strengthen muscles and improve limb mobility and overall function of the body. The physiotherapists may design personalized exercise programs to manage challenges associated with the condition.
• Pain Management: The doctor may prescribe some medications to relieve back or joint pain.
• Genetic Counseling: The doctor may counsel the patient and their family members as a part of the treatment. They may also offer some guidance regarding family planning.
• Assistive Devices: The doctor may also advise some assistive devices, such as braces, mobility aids, and orthopedic shoes, to improve limb mobility and daily functioning.
• Surgical Interventions: In some cases, surgical interventions are recommended to prevent complications. The surgical intervention includes joint replacement surgery of the affected joints and spinal surgeries to correct curvature.

Conclusion

In conclusion, spondyloepiphyseal dysplasia congenita is a congenital anomaly affecting the skeletal long bones. The cause of the condition is a gene mutation in the COL2A1 gene. The person may experience underdeveloped long bones, abnormalities, and affected joint mobility. The management intervention includes medical, physical therapy, genetic counseling, and supportive care. However, the medical treatment does not ensure a cure but may help improve the patient's quality of life.