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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.
Congenital hip dysplasia: CHD Coronary heart disease: CHF Congestive heart failure: CIDP Chronic inflammatory demyelinating polyneuropathy: CIPA Congenital insensitivity to pain with anhidrosis: CIP Congenital insensitivity to pain: CJD Creutzfeldt–Jakob disease: CKD Chronic kidney disease: CLOVES syndrome
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).
Pronunciation follows convention outside the medical field, in which acronyms are generally pronounced as if they were a word (JAMA, SIDS), initialisms are generally pronounced as individual letters (DNA, SSRI), and abbreviations generally use the expansion (soln. = "solution", sup. = "superior").
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 ).
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 ).
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.