Osteogenesis Imperfecta

A genetic or heritable condition- osteogenesis imperfecta (OI) causes bones to fracture (break) readily, sometimes with no apparent cause or slight damage. The symptoms of OI, also known as brittle bone disease, can be minor with only a few fractures, or severe with several medical issues.

The majority of the time, osteogenesis imperfecta (OI) is caused by a modification or defect in the genes that provide the instructions for producing type I collagen. Also, bones include type I collagen, which contributes to their strength.

Due to a genetic flaw, the body either produces insufficient or wrong amounts of collagen. This results in brittle bones that shatter more readily. There is no way to stop the illness. Other connective tissues including skin, lungs, ligaments, and tendons also contain type I collagen, and these tissues are occasionally impacted.

Types of Osteogenesis Imperfecta

OI has 19 varieties according to experts. The first four varieties of osteogenesis imperfecta are the most prevalent. Thus, these consist of:

Type I: This is the most prevalent and mildest kind of OI. Type I causes muscular wasting or shattered bones (bone fractures). Also, it does not lead to any deformation of the bones.
Type II: Many Type II newborns are unable to breathe and pass away at an early age. Even before the infant is born, type II causes several shattered bones.
Type III: Bone breaks in newborns are rather common. In severe cases, type III causes physical impairments.
Type IV: Bones might fracture easily. Children of this kind typically experience their first bone break before reaching puberty. There may be little to significant bone deformities in Type IV patients.

Symptoms

All OI patients have fragile, brittle bones. Over the course of their lives, some OI sufferers may only break a few bones. Others, particularly those who have damaged bones before birth, may experience hundreds of fractures during their career.

Other symptoms, which can be minor to severe and differ from person to person, can occur in people with OI. Malformed or bending long bones are a couple of them.

Short in stature.
Skin that is prone to bruising.
Flexible joints.
Skeletal muscles.
Eyes with sclera that appears blue, purple, or grey.
Face with a triangle-like form.
A barrel-shaped set of ribs.
A spine that curves.
Also, compression or collapse of the spine’s vertebrae.
Teeth that are cracked, distorted, or discolored.
The term “malocclusion” refers to improper tooth alignment.
Loss of hearing.
Breathing difficulties.
Coxa vara is a deformity of the hip joint when the femur’s neck is bent downward.
Joint contractures (when a joint is perpetually bent or straightened).

Treatment

Treatment aims to strengthen bones and enable OI patients to live more independently. Thus, options for treatment for osteogenesis imperfecta include:

Occupational therapy (OT): OT focuses on small motor skills like buttoning a shirt or tying shoes.
Physical therapy (PT): Exercises that improve strength, flexibility, and range of motion are recommended by physical therapists.
Assistive devices: The use of mobility aids like walkers, canes, or crutches may be beneficial.
Oral and dental care: OI may result in tooth decay, color changes, or chipping. Thus, people with the syndrome require routine dental examinations.
Medications: Your doctor may suggest painkillers or medications that reduce bone loss depending on your symptoms.

The Bottom Line

An inherited bone disorder is osteogenesis imperfecta. Bones shatter quickly in those who are born with the disease. Also, numerous variations of osteogenesis imperfecta exist. Some are more severe than others. Other OI kinds are controllable. Babies born with moderate forms of OI can grow up to have normal lives. Moreover, treatment for osteogenesis imperfecta emphasizes strengthening bones & enhancing the quality of life.