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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.
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). [1] JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide.
Chondrodystrophy has an autosomal recessive pattern of inheritance.. Chondrodystrophy is an autosomal recessive disorder, meaning that in order for this disease to be expressed, the affected individual must possess two copies of the allele for the disorder.
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long ...
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 ...
Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. Flat feet are very common. [2] The spine is normal but may have a few irregularities, such as scoliosis. [citation needed]
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.
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 .