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Jansen's metaphyseal chondrodysplasia is inherited in an autosomal dominant manner. Jansen's metaphyseal chondrodysplasia ( JMC ) is a disease that results from ligand -independent activation of the type 1 ( PTH1R ) of the parathyroid hormone receptor , due to one of three reported mutations (activating mutation).
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 .
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.
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.
Metaphyseal tumors or lesions include osteosarcoma, chondrosarcoma, fibrosarcoma, osteoblastoma, enchondroma, fibrous dysplasia, simple bone cyst, aneurysmal bone cyst, non-ossifying fibroma, and osteoid osteoma. [5] One of the clinical signs of rickets that doctors look for is cupping and fraying at the metaphyses when seen on X-ray.
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 .
Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. [1] When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs.
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.