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Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.
Medical genetics. Metaphyseal dysplasia, or Pyle disease, [3] is a disorder of the bones. It is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of ...
Achondroplasia is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. It is also the most common type of non-lethal osteochondrodysplasia or skeletal dysplasia. The prevalence is approximately 1 in 25,000 births. [6] Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3 ...
This page was last edited on 28 June 2019, at 21:30 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may ...
Chondrodystrophy. Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. [1] As a very general term, it is only used in the medical literature when a more precise description of the condition is unavailable.
In humans a similar mutation (G595E) has been associated with Schmid metaphyseal chondrodysplasia (SMCD), a relatively mild skeletal disorder that is also associated with dwarfism. [citation needed] The now extinct Ancon sheep was created by humans through the selective breeding of common domestic sheep with achondroplasia. The average-sized ...
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, [1] characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones ...
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