Introduction

We all take the ability to run, jump, play, even WALK without injury & worry for granted. But while you read this, I want you to imagine. Imagine doing ANY of the above, even just STANDING could cause you to break a bone. This is the reality that faces any sufferer of Osteogenesis Imperfecta

Definition

A disorder that is inhereted, & causes bones & collagen to form incorrectly. It causes the bones to be extremely brittle & extremely easy to break. (think of glass). There are 4 different forms of Osteogenesis Imperfecta, also referred to as OI. Type 2 is extremely severe & is usually fatal shortly after birh. But the other 3 types, 1, 3, & 4, have some very distinct symptoms (weak bones being very distinctive), & yet some of the other symptoms overlap.

Cause

OI occurs 1 in every 20,000 births & affects males & females equally. The disease is inhereted as Autosomal Dominant, meaning only 1 parent needs the "bad" gene for a child to be born with the disease. If a person has the disease, a child born to that person has a 50% chance of having it as well.

Symptoms

Type 1 OI (considered the most common & the mildest type)
-Bones are more apt to fracture, with most fractures occuring before puberty. People with this type typically have about 20-40 fractures before the onset of puberty.
-Size & height is normal or near normal
-Joins are loose & the muscle tone is low.
-The whites of the eyes have a blue, purple, or gray tint.
-The shape of the face is usually triangular.
-Deformity of bones is absent.
-Brittle Teeth (Dentinogenesis Imperfecta) might occur.
-People with this type tend to develop Scoliosis (curvature of the spine)
-Hearing loss is a possible symptom that begins in the early 20s or 30s if it does develop.
-The structure of the collagen is normal, there is just not enough present.
Type 2 OI (considered the most severe form
-Usually fatal shortly at or after birth due to respiratory issues.
-Fractures are numorous & the rate of bone deformity is quite severe.
-The size & height is small & the lungs are underdeveloped.
-The collagen is not properly formed.
Type 3 OI (Most severe type that is survivable.
-Bones fracture very easily, with x-rays revealing fractures that healed before birth. People with Type 3 typically have 100+ fractures before puberty.
-Height & Size is significantly shorter then what it's supposed to be.
-Whites of the eyes are blue, purple, or gray in tint.
-The joints are loose, & the muscle development is poor in the arms & legs.
-The rib-cage has a barrel shape to it.
-Face shape is triangular
-Scoliosis (curvature of the spine) IS present.
-Respiratory problems can develop.
-Bones are deformed & the deformities are often severe.
-Brittle teeth (Dentinogenesis Imperfecta) is possible.
-Hearing loss is possible.
-The collagen is not formed properly.
Type 4 OI (severity falls between 1 & 3)
-Bones fracture easily, with most fractures occuring before puberty.
-Height & Size is shorter then average.
-Whites of the eyes are are normal, often appearing white or near-white.
-The deformity of the bones is mild to moderate.
-Scoliosis (curvature of the spine) is likely.
-The rib cage is barrel shaped.
-The face is triangular.
-Brittle Teeth (Dentinogenesis Imperfecta) may occur.
-Hearing loss is possible.
-Formation of Collagen is not proper.

Treatment & Prognosis

There is no treatment or cure for OI. Some of the symptoms can be treated. Early capping of the teeth, for brittle teeth can strengthen them a little. A walker or wheelchair may be required. Hearing Aids may be needed for hearing loss, Pain is managed with medication & exercise is encouraged to strengthen bones & muscles.
Prognosis varies. In types 1, 3, & 4 life-span is generally not shortened, depending on the severity of the disorder, severity of the bone fractures, & severity of the bone deformities.
OI 2 is a very different story. 50% of babies born with this form die at birth, the rest die soon after. In recent years, SOME people with this type have lived to see themselves as young adults.

For ALL the information, including DETAILS about collagen....here's the link to where I got my information from:
Osteogenesis Imperfecta