dysplasia epiphyseal multiplex - определение. Что такое dysplasia epiphyseal multiplex
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Что (кто) такое dysplasia epiphyseal multiplex - определение

MEDICAL CONDITION
Recessive multiple epiphyseal dysplasia

Autosomal recessive multiple epiphyseal dysplasia         
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.
Multiple epiphyseal dysplasia         
AN OSTEOCHONDRODYSPLASIA THAT HAS MATERIAL BASIS IN DEFECTIVE CARTILAGE MINERALIZATION INTO BONE WHICH RESULTS IN IRREGULAR OSSIFICATION CENTERS OF THE LOCATED IN HIP OR LOCATED IN KNEE. THE DISEASE HAS SYMPTOM FATIGUE, HAS SYMPTOM JOINT PAIN.
Fairbanks disease; Fairbank disease; Fairbank's disease; EDM1; EDM2; EDM3; EDM4; EDM5; EDM6; Multiple Epiphyseal Dysplasia
Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Multiplex (assay)         
ASSAY
Multiplex sequencing technique; Multiplex assay; Multiplex (Assay)
In the biological sciences, a multiplex assay is a type of immunoassay that uses magnetic beads to simultaneously measure multiple analytes in a single experiment. A multiplex assay is a derivative of an ELISA using beads for binding the capture antibody.

Википедия

Autosomal recessive multiple epiphyseal dysplasia

Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.

Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height. The incidence is unknown as many cases are not diagnosed due to mild symptoms.