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Short-limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive type of achondroplasia which is characterized by short stature, bowing of the long bones, and generalized metaphyseal abnormalities alongside signs of SCID such as recurrent severe infections, failure to thrive, chronic diarrhea Diarrhea, also spelled diarrhoea, is the condition of having at least three loose, liquid, or watery bowel movements each day. It often lasts for a few days and can result in dehydration due to fluid loss. Signs of dehydration often begin wi ..., and a notable absence of T and B lymphocytes. Around 11 cases have been described in medical literature. References {{reflist Cell surface receptor deficiencies Connective tissue diseases Growth disorders Rare diseases Immunodeficiency Genetic diseases and disorders Autosomal recessive disorders ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
