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Schmid Metaphyseal Chondrodysplasia
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. Unlike other " rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses The metaphysis is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epiphyses. The metaph .... It is named for the German researcher F. Schmid, who characterized it in 1949.Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949. References External links Collagen disease Connective tissue diseases {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chondrodysplasia
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. Osteochondrodysplasias can result in marked functional limitation and even mortality. Osteochondrodysplasias subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis. Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. Early diagnosis, and timely management of skeletal dysplasia are important to combat functional deterioration. Types Achondroplasia ''Achondroplasia'' is a type of autosomal d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Collagen, Type X, Alpha 1
Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the ''COL10A1'' gene. This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Type X collagen has a short triple helical collagen domain flanked by the N-terminal NC2 and the C-terminal NC1 domains. The C-terminal NC1 domain has complement C1q-like structure. Collagen X forms hexamer complexes through the association of NC1 regions. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). DDR2 is a collagen receptor for it. Recent studies into the early detection of colon cancer have identified COL10A1 protein levels in serum as a potential diagnostic biomarker In biomedical contexts, a biomarker, or biologi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rickets
Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone deformities, bone pseudofractures and fractures, muscle spasms, or an abnormally curved spine. The most common cause of rickets is a vitamin D deficiency, although hereditary genetic forms also exist. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus. The underlying mechanism involves insufficient calcification of the growth plate. Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. Prevention for exclusively breastfed babies ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Plate
The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. It is the part of a long bone where new bone growth takes place; that is, the whole bone is alive, with maintenance remodeling throughout its existing bone tissue, but the growth plate is the place where the long bone grows longer (adds length). The plate is only found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. This replacement is known as epiphyseal closure or growth plate fusion. Complete fusion can occur as early as 12 for girls (with the most common being 14-15 years for girls) and as early as 14 for boys (with the most common being 15–17 years for boys). Structure Development Endochondral ossification is responsible for the initial bone development from cartilage in utero and infants and the longitudinal growth of long bones in the epiphyseal plate. The plate' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metaphyses
The metaphysis is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epiphyses. The metaphysis contains a diverse population of cells including mesenchymal stem cells, which give rise to bone and fat cells, as well as hematopoietic stem cells which give rise to a variety of blood cells as well as bone-destroying cells called osteoclasts. Thus the metaphysis contains a highly metabolic set of tissues including trabecular (spongy) bone, blood vessels , as well as Marrow Adipose Tissue (MAT). The metaphysis may be divided anatomically into three components based on tissue content: a cartilaginous component (epiphyseal plate), a bony component (metaphysis) and a fibrous component surrounding the periphery of the plate. The growth plate synchronizes chondrogenesis with osteogenesis or interstitial cartilage growth with both appos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Collagen Disease
Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be more appropriate for diseases associated with defects in collagen, which is a component of the connective tissue. The term "collagen disease" was coined by Dr. Alvin F. Coburn in 1932, on his quest to discover streptococcal infection as the cause for rheumatic fever. See also * Collagenopathy, types II and XI * Connective tissue disease A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds togeth ... References External links Collagen diseaseentry in the public domain NCI Dictionary of Cancer Terms Autosomal dominant disorders {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
