Osteogenesis imperfecta type 2
- Osteogenesis imperfecta type 2
- An inherited connective tissue disorder with extremely severe bone fragility. This is the lethal form of “brittle bone disease.” Osteogenesis imperfecta type 2 is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures. This disease (also called osteogenesis imperfecta congenita or Vrolik disease) is usually not compatible with life. The children are usually stillborn or die of respiratory failure in early infancy. The condition results from mutations that impair the production of type I collagen, a key component of connective tissue. Mutations responsible for osteogenesis imperfecta type 2 have been identified in both the COL1A1 and COL1A2 genes. (COL1A1 is the gene for type 1 alpha-1 chain of collagen (COL1A1) and is located in chromosome17q21.31-q22.05. COL1A2 is the gene for type 2 alpha-chain of collagen (COL1A2) which is in chromosome 7q22.1).
Medical dictionary.
2011.
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Osteogenesis imperfecta type 1 — An inherited connective tissue disorder featuring bone fragility and blue sclerae (blue whites of the eyes). This is the classic form of brittle bone disease. Osteogenesis imperfecta type 1 is an autosomal dominant trait. (One copy of the mutant… … Medical dictionary
Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q … Wikipedia
Osteogenesis imperfecta — Brittle bone disease. Osteogenesis imperfecta (OI) is not one but a group of genetic diseases, all of which affect collagen in connective tissue in the body and all of which result in fragile bones. The best known types are types I and II. * * *… … Medical dictionary
osteogenesis imperfecta — /im peuhr fek teuh/, Pathol. a rare hereditary disease in which abnormal connective tissue development leads to fragile bones subject to fracture. [1900 05; < NL: imperfect osteogenesis] * * * Group of connective tissue diseases in which the… … Universalium
Osteogenesis imperfecta congenita — See: Osteogenesis imperfecta type II. * * * osteogenesis imperfecta con·gen·i·ta kən jen ət ə n a severe and often fatal form of osteogenesis imperfecta characterized by usu. multiple fractures in utero … Medical dictionary
Osteogenesis imperfecta tarda — See: Osteogenesis imperfecta type I. * * * osteogenesis imperfecta tar·da tär də n a less severe form of osteogenesis imperfecta which is not apparent at birth … Medical dictionary
Osteogenesis imperfecta with blue sclerae — See: Osteogenesis imperfecta type I … Medical dictionary
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Collagen, type I, alpha 1 — PDB rendering based on 1y0f … Wikipedia
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