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Urbach–Wiethe disease is inherited in an autosomal recessive manner. Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. [1] [2] [3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, [4] [5] although cases may be recognized dating back as ...
Lipoid proteinosis, also known as Urbach–Wiethe disease This page was last edited on 29 December 2019, at 06:13 (UTC). Text is available under the Creative Commons ...
The system for classifying collagenopathies is changing as researchers learn more about the genetic causes of these disorders. The clinical features of the type II and XI collagenopathies vary among the disorders, but there is considerable overlap.
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. [1] The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
Urbach–Wiethe disease This page was last edited on 15 August 2024, at 19:06 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 ...
Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births. [1] Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.
Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. [1] 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.
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. [1] Stickler syndrome is a subtype of collagenopathy, types II and XI.