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- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type abstract "Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and abnormal curvature of the spine (lordosis).As a result of these serious skeletal problems, many infants with platyspondylic lethal skeletal dysplasia, Torrance type are born prematurely, are stillborn, or die shortly after birth from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood, however.This condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues).Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, resulting in a reduced amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the skeletal abnormalities characteristic of platyspondylic lethal skeletal dysplasia, Torrance type.This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type thumbnail Autosomal_dominant_-_en.svg?width=300.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageExternalLink ghr.nlm.nih.gov.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageID "4091222".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageLength "2432".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageOutDegree "15".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageRevisionID "483947912".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Autosomal_dominant.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Bone.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Brachydactyly.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink COL2A1.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Cartilage.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Category:Skeletal_disorders.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Chondrocyte.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Chondrocytes.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Collagen.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Collagen,_type_II,_alpha_1.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Connective_tissue.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Dominance_(genetics).
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Hip_bone.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Lordosis.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Pelvic_bone.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Platyspondyly.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink Vitreous_humour.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLink File:Autosomal_dominant_-_en.svg.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageWikiLinkText "Platyspondylic lethal skeletal dysplasia, Torrance type".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type hasPhotoCollection Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wikiPageUsesTemplate Template:Scleroprotein_disease.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type subject Category:Autosomal_dominant_disorders.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type subject Category:Skeletal_disorders.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type hypernym Disorder.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type type Disease.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type comment "Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly).".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type label "Platyspondylic lethal skeletal dysplasia, Torrance type".
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type sameAs m.0bhjfd.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type sameAs Q7202845.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type sameAs Q7202845.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type wasDerivedFrom Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type?oldid=483947912.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type depiction Autosomal_dominant_-_en.svg.
- Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type isPrimaryTopicOf Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type.