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Brittle Bone Disease (Osteogenesis Imperfecta) Learning Center
Symptoms could include:
- Fractures
- Short Stature
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Blue Sclera
- Hearing Impairment
- Spontaneous Fractur...
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Barrel Chest
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Tooth Abnormalities
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Deformity of Spine
- Hearing Loss On One...
- Laxity, Joint
- Bruises
- Muscle Weakness
- Skeletal Deformity
- Flat Foot
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Bruises Easily
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Bow Legged
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Congenital Musculoskeletal Anomalies
- Sunken Bridge of No...
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All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below average height (short stature). However, the severity of the disease varies greatly.
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Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2 and possibly abnormalities in other genes. In OI, the genetic abnormality causes one of two things to occur. It may direct cells to make an altered collagen...
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OI is usually inherited as an autosomal dominant condition. In autosomal dominant inheritance, a single abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from either parent can cause the disease. One of ...
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If more pressure is put on a bone than it can stand, it will split or break. A break of any size is called a fracture. If the broken bone punctures the skin, it is called an open fracture (compound fracture. A stress fracture is a hairline crack i...
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A fracture is a crack or break in a bone. It results from the application of excessive force through injuries, such as a fall or a hard blow.
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A fracture is a complete or incomplete break in a bone resulting from the application of excessive force.
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A fracture is a complete or incomplete break in a bone resulting from the application of excessive force. An injury may be classified as a fracture-dislocation when a fracture involves the bony structures of any joint with associated dislocation o...
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A fracture is a complete or incomplete break in a bone resulting from the application of excessive force.
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Short stature refers to any person who is significantly below the average height for a person of the same age and sex. The term often refers to children or adolescents who are significantly below the average height of their peers.
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Hearing loss is the total or partial inability to hear sound in one or both ears. See also: Hearing loss of aging
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Hearing impairment is the temporary or permanent loss of some or all hearing in one or both ears.
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Hearing loss is any degree of impairment of the ability to apprehend sound.
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Hearing loss is any degree of impairment of the ability to comprehend sound.
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Hearing begins in the womb—pregnant women have reported feeling the fetus move in response to loud noises at 31 weeks (7 weeks before full-term delivery). Newborns are sensitive to the location, frequency, pitch, and volume of sounds. Loud sounds ...
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Hearing loss is any degree of impairment of the ability to apprehend sound.
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Osteomalacia is softening of the bones due to a lack of vitamin D or a problem with the body's ability to break down and use this vitamin.
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Osteomalacia is a disease in which insufficient mineralization leads to a softening of the bones. Usually, this is caused by a deficiency of vitamin D , which reduces bone formation by altering calcium and phosphorus metabolism . Osteomalacia can ...
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The spine is a shaft comprised of over 25 small bones called vertebrae that support the upper body. The cervical spine (C-spine) is the upper portion, comprised of 7 vertebrae.
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Hearing loss can be caused by many things – some reversible such as wax buildup in the ear canal or ear infections with fluid build up. Some hearing loss is irreversible – that due to mechanical problems within the ear itself, or sensorineural problems within the inner ear.
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Hypermobile joints are joints that move beyond the normal range with little effort. Joints most commonly affected are the elbows, wrists, fingers, and knees.
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A bruise is an area of skin discoloration. A bruise occurs when small blood vessels break and leak their contents into the soft tissue beneath the skin.
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Bruises, or ecchymoses, are a discoloration and tenderness of the skin or mucous membranes due to the leakage of blood from an injured blood vessel into the tissues. Pupura refers to bruising as the result of a disease condition. A very small brui...
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Bruises, or ecchymoses, are a discoloration and tenderness of the skin or mucous membranes due to the leakage of blood from an injured blood vessel into the tissues. Pupura refers to bruising as the result of a disease condition. A very small brui...
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Bruises, or ecchymoses, are a discoloration and tenderness of the skin or mucous membranes due to the leakage of blood from an injured blood vessel into the tissues. Purpura refers to bruising as the result of a disease condition. A very small bru...
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True muscle weakness means that full effort does not produce a normal muscle contraction or movement. A voluntary muscle contraction is generated when the brain sends a signal through the spinal cord and nerves to a muscle.
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Weakness is a reduction in the strength of one or more muscles.
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Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs.
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Pes planus is a condition in which the arch or instep of the foot collapses and comes in contact with the ground. In some individuals, this arch never develops while they are growing.
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Most of us get bruises from bumping into something from time to time. Bruising sometimes increases with age, especially in women as the capillary walls become more fragile and the skin becomes thin.
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A low nasal bridge is a flattening of the top part of the nose.
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