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- Kniest_dysplasia abstract "Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones. This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr. Kniest noticed that his 50 year old patient was having difficulties with restricted joint mobility. The patient had a short stature and was also suffering from blindness. Upon analysis of the patient's DNA, Dr. Kniest discovered that a mutation had occurred at a splice site of the COL2A1 gene. This condition is very rare and occurs less than 1 in 1,000,000 people. Males and females have equal chances of having this condition. Currently, there is no cure for kniest dysplasia. Alternative names for Kniest Dysplasia can include Kniest Syndrome, Swiss Cheese Cartilage Syndrome, Kniest Chondrodystrophy, or Metatrophic Dwarfism Type II.".
- Kniest_dysplasia thumbnail Ethan_Crough,_male_dwarf.jpg?width=300.
- Kniest_dysplasia wikiPageID "2573848".
- Kniest_dysplasia wikiPageLength "9704".
- Kniest_dysplasia wikiPageOutDegree "43".
- Kniest_dysplasia wikiPageRevisionID "707349713".
- Kniest_dysplasia wikiPageWikiLink Arthritis.
- Kniest_dysplasia wikiPageWikiLink Bilevel_positive_airway_pressure.
- Kniest_dysplasia wikiPageWikiLink CT_scan.
- Kniest_dysplasia wikiPageWikiLink Cataract.
- Kniest_dysplasia wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Kniest_dysplasia wikiPageWikiLink Category:Congenital_disorders.
- Kniest_dysplasia wikiPageWikiLink Category:Orthopaedic_eponyms.
- Kniest_dysplasia wikiPageWikiLink Category:Skeletal_disorders.
- Kniest_dysplasia wikiPageWikiLink Chondroldysplasias.
- Kniest_dysplasia wikiPageWikiLink Collagen.
- Kniest_dysplasia wikiPageWikiLink Collagen,_type_II,_alpha_1.
- Kniest_dysplasia wikiPageWikiLink Continuous_positive_airway_pressure.
- Kniest_dysplasia wikiPageWikiLink Coronal_clefts.
- Kniest_dysplasia wikiPageWikiLink Diaphysis.
- Kniest_dysplasia wikiPageWikiLink Dominance_(genetics).
- Kniest_dysplasia wikiPageWikiLink Dwarfism.
- Kniest_dysplasia wikiPageWikiLink EOS_Imaging.
- Kniest_dysplasia wikiPageWikiLink Epiphysis.
- Kniest_dysplasia wikiPageWikiLink Exon.
- Kniest_dysplasia wikiPageWikiLink Hypochondrogenesis.
- Kniest_dysplasia wikiPageWikiLink Kyphoscoliosis.
- Kniest_dysplasia wikiPageWikiLink Magnetic_resonance_imaging.
- Kniest_dysplasia wikiPageWikiLink Mechanical_ventilation.
- Kniest_dysplasia wikiPageWikiLink Metaphysis.
- Kniest_dysplasia wikiPageWikiLink Myopi.
- Kniest_dysplasia wikiPageWikiLink Myringotomy.
- Kniest_dysplasia wikiPageWikiLink Orthotics.
- Kniest_dysplasia wikiPageWikiLink Osteochondrodysplasia.
- Kniest_dysplasia wikiPageWikiLink Osteotomy.
- Kniest_dysplasia wikiPageWikiLink Platyspondyly.
- Kniest_dysplasia wikiPageWikiLink Point_mutation.
- Kniest_dysplasia wikiPageWikiLink RNA_splicing.
- Kniest_dysplasia wikiPageWikiLink Respiratory_tract_infection.
- Kniest_dysplasia wikiPageWikiLink Retinal_Detachment_repair.
- Kniest_dysplasia wikiPageWikiLink Scoliosis.
- Kniest_dysplasia wikiPageWikiLink Spinal_Fusion.
- Kniest_dysplasia wikiPageWikiLink Surgical_realignment.
- Kniest_dysplasia wikiPageWikiLink Type_II_collagen.
- Kniest_dysplasia wikiPageWikiLink File:Autosomal_dominant_-_en.svg.
- Kniest_dysplasia wikiPageWikiLink File:BIPAP.JPG.
- Kniest_dysplasia wikiPageWikiLink File:Ethan_Crough,_male_dwarf.jpg.
- Kniest_dysplasia wikiPageWikiLink File:Scoliosis_cobb.gif.
- Kniest_dysplasia wikiPageWikiLinkText "Kniest dysplasia".
- Kniest_dysplasia wikiPageUsesTemplate Template:Reflist.
- Kniest_dysplasia wikiPageUsesTemplate Template:Scleroprotein_disease.
- Kniest_dysplasia subject Category:Autosomal_dominant_disorders.
- Kniest_dysplasia subject Category:Congenital_disorders.
- Kniest_dysplasia subject Category:Orthopaedic_eponyms.
- Kniest_dysplasia subject Category:Skeletal_disorders.
- Kniest_dysplasia hypernym Form.
- Kniest_dysplasia type Disorder.
- Kniest_dysplasia type Orthopedic.
- Kniest_dysplasia type Pediatric.
- Kniest_dysplasia comment "Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones. This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr.".
- Kniest_dysplasia label "Kniest dysplasia".
- Kniest_dysplasia sameAs Q6422092.
- Kniest_dysplasia sameAs Kniest-Dysplasie.
- Kniest_dysplasia sameAs m.07nzqn.
- Kniest_dysplasia sameAs Q6422092.
- Kniest_dysplasia wasDerivedFrom Kniest_dysplasia?oldid=707349713.
- Kniest_dysplasia depiction Ethan_Crough,_male_dwarf.jpg.
- Kniest_dysplasia isPrimaryTopicOf Kniest_dysplasia.