Children’s Skeletal Disorders: Causes, Symptoms, and Treatments

Skeletal disorders are conditions that affect the bones and joints of children. They can cause various problems, such as pain, deformity, fracture, infection, or growth impairment. Some skeletal disorders are present at birth, while others develop later in childhood. Some are inherited, while others have no known cause. Some are rare, while others are common.

In this article, we will discuss some of the most common types of skeletal disorders in children, their causes, symptoms, and treatments.

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a genetic disorder that causes the bones to be brittle and break easily. It is also known as brittle bone disease. There are different types of OI, ranging from mild to severe. Some children with OI may have only a few fractures in their lifetime, while others may have hundreds. OI can also affect other parts of the body, such as the teeth, skin, eyes, and ears.

The main symptom of OI is frequent bone fractures, often from minor trauma or no apparent cause. Other symptoms may include:

• Short stature

• Blue or gray sclera (the white part of the eye)

• Hearing loss

• Dental problems

• Joint laxity

• Scoliosis (curvature of the spine)

• Bone deformity

There is no cure for OI, but treatment can help prevent or reduce fractures and improve quality of life. Treatment may include:

• Medications that increase bone density and strength, such as bisphosphonates or denosumab

• Surgery to insert metal rods or plates to stabilize the bones

• Physical therapy to improve muscle strength and mobility

• Occupational therapy to help with daily activities and adaptive devices

• Braces, splints, or casts to protect the bones and joints

• Dental care to prevent or treat tooth decay and malocclusion

• Hearing aids or cochlear implants to treat hearing loss

• Genetic counseling to provide information and support to families with OI

Rickets

Rickets is a disorder that causes the bones to become soft and weak due to a lack of vitamin D, calcium, or phosphorus. Vitamin D is essential for the absorption of calcium and phosphorus from the diet and the formation of healthy bones. Rickets can occur due to inadequate exposure to sunlight, poor nutrition, malabsorption disorders, kidney diseases, or genetic defects.

The main symptom of rickets is bone pain and tenderness, especially in the legs, arms, chest, and spine. Other symptoms may include:

• Delayed growth

• Bowing of the legs or knock-knees

• Widening of the wrists or ankles

• Rachitic rosary (beading of the ribs)

• Craniotabes (softening of the skull)

• Dental problems

• Muscle weakness

• Seizures

The treatment of rickets depends on the cause and severity of the condition. Treatment may include:

• Vitamin D supplements or injections

• Calcium and phosphorus supplements

• Dietary changes to increase intake of vitamin D-rich foods, such as fish oil, egg yolks, fortified milk, cereals, and juices

• Exposure to sunlight or artificial ultraviolet light

• Surgery to correct bone deformities or fractures

Skeletal Dysplasias

Skeletal dysplasias are a group of genetic disorders that affect the development and growth of the bones and cartilage. They are also known as dwarfism or chondrodystrophies. There are more than 400 types of skeletal dysplasias, each with different features and complications. Some of the most common types are achondroplasia , diastrophic dysplasia , hypochondroplasia , spondyloepiphyseal dysplasia , and osteopetrosis .

The main symptom of skeletal dysplasias is short stature, which may be disproportionate (affecting some parts of the body more than others) or proportionate (affecting all parts of the body equally). Other symptoms may vary depending on the type of skeletal dysplasia and may include:

• Large head with prominent forehead

• Flat nose bridge

• Small jaw

• Short limbs with limited range of motion

• Spinal curvature or instability

• Joint pain or arthritis

• Respiratory problems

• Hydrocephalus (excess fluid in the brain)

• Hearing loss

• Vision problems

The treatment of skeletal dysplasias depends on the type and severity of the condition. Treatment may include:

• Growth hormone therapy to increase height and improve body proportions

• Surgery to correct bone deformities or complications, such as spinal compression, joint replacement, limb lengthening, or cranial decompression

• Physical therapy to improve muscle strength and mobility

• Occupational therapy to help with daily activities and adaptive devices

• Orthotics or braces to support the bones and joints

• Genetic counseling to provide information and support to families with skeletal dysplasias

Conclusion

Skeletal disorders in children are diverse and complex conditions that require specialized care and attention. Children with skeletal disorders may face various challenges and complications, such as pain, disability, social stigma, or psychological distress. However, with proper diagnosis and treatment, many children with skeletal disorders can achieve optimal health and well-being. If you have any concerns or questions about your child’s skeletal health, you should consult your doctor or a pediatric orthopedist. They can provide you with more information and guidance on how to cope with this challenge.