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Diseases » Osteogenesis imperfecta » Glossary

Glossary for Osteogenesis imperfecta

Al Gazali - Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
Blegvad-Haxthausen syndrome: A rare syndrome characterized by skin wasting, zonular cataract, blue eyes and osteogenesis imperfecta.
Blue sclerae: Blue colouring of the sclerae in the eye.
Bone conditions: Conditions that affect the bones
Brain damage: Damage to the brain from various causes
Brain symptoms: Symptoms affecting the brain
Conductive hearing loss: Hearing loss due to a defect in the external auditory canal or middle ear.
Connective tissue disorders: Any condition affecting connective tissues.
Deafness: Inability to hear sounds.
Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
Fractures: Fracture of a bone; also "broken bone".
Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
Genu varum: The presence of bowed legs - knees are apart and ankles are together while standing. Causes of the anomaly include certain intrauterine positions, rickets and various bone disorders.
Heritable Disorders of Connective Tissue: Genetic inheritable connective tissue disorders.
Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
Job syndrome: An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin.
Joint hypermobility: Increased movement of the joints with a predisposition to being dislocated.
Joint laxity: Slackness or looseness of the joints
Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
Muscle atrophy: Decrease in size and bulk of muscle.
OI, Type I: A genetic condition characterized mainly by fragile bones that fracture easily and blue sclerae. The fractures tend start during early childhood (when walking starts) and becomes worse after menopause or in old age. Fractures tend to heal normally. Type I is the mildest form of osteogenesis imperfecta and results from a reduced amount of normal collagen in the body. Other forms of osteogenesis imperfect tend to involve the presence of abnormal collagen.
Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
Osteoporosis: Bone thinning and weakening from bone calcium depletion.
Otosclerosis: Genetic ear bone disorder
Pathological fracture: The occurrence of a fracture a bone of the body caused by a disease state
Respiratory symptoms: Symptoms affecting the breathing systems.
Scoliosis: Sideways curvature of the spine
Skull fracture: A fracture of the bones of the skull
Stickler's syndrome: A condition which is characterized by a hereditary progressive arthro-ophthalmopathy
Tooth abnormalities: are acquired and inherited conditions which alter the size, shape and number of teeth
Weak bones: Weakening of the bones