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Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, 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.
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.
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia. Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [3] The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous).
This is a list of roots, suffixes, and prefixes used in medical terminology, their meanings, and their etymologies. Most of them are combining forms in Neo-Latin and hence international scientific vocabulary. There are a few general rules about how they combine.
Epimetaphyseal dysplasia cataract; Epimetaphyseal skeletal dysplasia; Epiphyseal dysplasia dysmorphism camptodactyly; Epiphyseal dysplasia hearing loss dysmorphism; Epiphyseal dysplasia multiple; Epiphyseal stippling syndrome osteoclastic hyperplasia; Epiphysealis hemimelica dysplasia
Angel-shaped phalango-epiphyseal dysplasia, also known as peripheral dysostosis, is a rare type of osteochondrodysplasia which is characterized by angel-shaped middle phalanges of the fingers and generalized metaphyseal dysplasia/delayed osseous age. [1] [2] Additional findings include joint hypermobility, hypodontia, and hip osteoarthritis ...
In 1956, the name "dysplasia epiphysealis hemimelica" was proposed by Fairbank. [1] The usual symptoms are the appearance of an osseous protuberance, on one side of the knee, ankle or foot joint which gradually increases Radiologically, [ 14 ] the condition shows a nonuniformity of growth and multiple unconnected ossification centers around the ...
Multiple epiphyseal dysplasia [7] Mucopolysaccharidosis [7] Other causes of genu valgum (knock knees) or genu varum (bow legs) such as rickets; Spondyloepiphyseal dysplasia congenita; Radiographic findings of the pelvis and hips found in Perthes disease should not be confused with pseudochondroplasia.