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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.
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 .
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.
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia. [ 2 ] [ 3 ] [ 1 ] It is associated with a deficiency of Thromboxane-A synthase , [ 4 ] which produces Thromboxane A2 .
Verloes Van Maldergem Marneffe syndrome, also known as microspherophakia-metaphyseal dysplasia is a very rare genetic disorder which is characterized by flattened and deformed vertebrae, developmental delay, dysplasia of the epiphyses and metaphyses, lens coloboma and dislocation, microspherophakia, nearsightedness, retinal detachment, and spinal stenosis.
Phytohemagglutinin. CHH is an autosomal recessive [2] inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.
Litigation related to vaccines and autism has led to an increase in VAERS reports filed by plaintiff's attorneys. A 2006 article in Pediatrics found that most VAERS reports related to thimerosal , and many related to autism , were filed in connection with litigation, leading the authors to caution that inappropriate reliance on VAERS data may ...