What are the four types of osteogenesis imperfecta?

What are the four types of osteogenesis imperfecta?

What are the types of osteogenesis imperfecta?

• Type I: This is the mildest and most common form of OI. Type I leads to broken bones (bone fractures) or muscle weakness.
• Type II: Babies born with Type II often can’t breathe and die young.
• Type III: Babies often have broken bones at birth.
• Type IV: Bones may break easily.

Is Type 3 osteogenesis imperfecta dominant or recessive?

OI type III is caused by changes ( mutations ) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner.

What type of genetic disorder is osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.

Why is sclera blue in osteogenesis imperfecta?

Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.

What is OI type 3 severe?

Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their peers, and may have severe bone deformities, breathing problems (which can be life-threatening), brittle teeth, a curved spine, ribcage deformities, and other problems.

What causes blue sclera?

Blue sclera: a bluish coloration of the whites of the eyes. The blue color is caused by thinness and transparency of the collagen fibers of the sclera, allowing the veins in the underlying tissue to show through. Blue sclerae are characteristic of a number of conditions, particularly connective tissue disorders.

What gene mutation causes osteogenesis imperfecta?

Osteogenesis imperfecta type I is caused by mutations in the COL1A1 gene or, less commonly, the COL1A2 gene. These genetic changes reduce the amount of type I collagen produced in the body, though the molecules that are produced are normal.

What is van der Hoeve syndrome?

Van der Hoeve’s syndrome is the all-round variant of Lobstein’s disease (late osteogenesis imperfecta) and is characterized by the concurrent presence of osteoporosis, blue sclerae, and deafness. The literature has reported sporadic cases of a combination of algodystrophic syndrome and Lobstein’s disease.

Can blue sclera be cured?

Still now, there is no cure of this disease. Genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition. Blue sclera may be associated with multisystem disorders so good history taking is most important.