Search results
Results From The WOW.Com Content Network
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.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, [1] is an autosomal recessive [2] congenital disorder affecting cartilage and bone development.
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).
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 ...
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. [1] The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones ( epiphyses and metaphyses ).
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 ...
Pseudoachondroplasia (also known as PSACH, pseudoachondroplastic dysplasia, and pseudoachondroplastic spondyloepiphyseal dysplasia syndrome) is an osteochondrodysplasia that results in mild to severely short stature due to the inhibition of skeletal growth primarily in the limbs. [2]
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. [1] The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones ( megaepiphyses ).