This article needs more reliable medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Achondrogenesis type 2" – news · newspapers · books · scholar · JSTOR(October 2019)
Achondrogenesis, type 2 results in short arms and legs, a small chest with short ribs, and underdeveloped lungs at birth.[1] Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation (ossification) in the spine and pelvis. Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. The skull bones may be soft, but they often appear normal on X-ray images. In contrast, bones in the spine (vertebrae) and pelvis do not harden.[citation needed]
Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 births. Achondrogenesis, type 2 is one of several 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, which prevents bones and other connective tissues from developing properly.
Achondrogenesis, type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder is not passed on to the next generation, however, because affected individuals hardly survive past puberty.
ReferencesEdit
^Roberts, Sean (16 June 2022). "Achondrogenesis type 2". NORD (National Organization for Rare Disorders). Retrieved 25 July 2022.
This article incorporates public domain text from The U.S. National Library of Medicine
External linksEdit
August 30, 2023
achondrogenesis, type, this, article, needs, more, reliable, medical, references, verification, relies, heavily, primary, sources, please, review, contents, article, appropriate, references, unsourced, poorly, sourced, material, challenged, removed, find, sour. This article needs more reliable medical references for verification or relies too heavily on primary sources Please review the contents of the article and add the appropriate references if you can Unsourced or poorly sourced material may be challenged and removed Find sources Achondrogenesis type 2 news newspapers books scholar JSTOR October 2019 Achondrogenesis type 2 results in short arms and legs a small chest with short ribs and underdeveloped lungs at birth 1 Achondrogenesis type 2 is a subtype of collagenopathy types II and XI This condition is also associated with a lack of bone formation ossification in the spine and pelvis Typical facial features include a prominent forehead a small chin and in some cases an opening in the roof of the mouth a cleft palate The abdomen is enlarged and affected infants often have a condition called hydrops fetalis in which excess fluid builds up in the body before birth The skull bones may be soft but they often appear normal on X ray images In contrast bones in the spine vertebrae and pelvis do not harden citation needed Achondrogenesis type 2SpecialtyMedical geneticsAchondrogenesis type 2 and hypochondrogenesis a similar skeletal disorder together affect 1 in 40 000 to 60 000 births Achondrogenesis type 2 is one of several 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 which prevents bones and other connective tissues from developing properly Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition The disorder is not passed on to the next generation however because affected individuals hardly survive past puberty References Edit Roberts Sean 16 June 2022 Achondrogenesis type 2 NORD National Organization for Rare Disorders Retrieved 25 July 2022 This article incorporates public domain text from The U S National Library of MedicineExternal links Edit Retrieved from https en wikipedia org w index php title Achondrogenesis type 2 amp oldid 1160055000, wikipedia, wiki, book, books, library,
