Osteogenesis imperfecta type 3 skin#

Bone abnormalities tend to get worse over time and often interfere with the ability to walk. Some infants have rib fractures that can cause life-threatening problems with breathing. Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in early infancy. Type III OI also has relatively severe signs and symptoms. Most infants with type II OI are stillborn or die shortly after birth, usually from breathing failure. These infants have short, bowed arms and legs hips that turn outward and unusually soft skull bones. Their chest is narrow and they have fractured and misshapen ribs and underdeveloped lungs. Infants with type II have bones that appear bent or crumpled and fractured before birth. Type II OI is the most severe form of OI. People who have type I OI have bone fractures during childhood and adolescence often due to minor trauma When these individuals reach adulthood they have fewer fractures. Type I OI is the mildest form of the condition. Osteogenesis imperfecta (OI) causes bones to be fragile and easily broken and is also responsible for other health problems. OI type VII is caused by recessive mutations in the CRTAP gene.

Osteogenesis imperfecta type 3 skin#

This type of collagen is the most common protein in bone, skin and other tissues that provide structure and strength to the body (connective tissues). The vast majority (90 percent) of OI is caused by a single dominant mutation in one of two type I collagen genes: COL1A1 or COL1A2.The COL1A1 and COL1A2 genes provide instructions for making proteins that are used to create a larger molecule called type I collagen. Three additional types of OI (type V, VI and VII) have also been identified. These types are distinguished mostly by fracture frequency and severity and by characteristic features. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average. OI occurs with equal frequency among males and females and among racial and ethnic groups. OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. People who have OI may also have muscle weakness, loose joints (joint laxity) and skeletal malformations.

In addition to having fractures, people with OI also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. OI is also called 'brittle bone disease.' OI varies in severity from person to person, ranging from a mild type to a severe type that causes death before or shortly after birth. Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.