Results for Skeletal X-ray
Showing 1 to 10 of 75 results
Showing 1 to 10 of 75 results
for Skeletal X-ray
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Skeleton X-Ray
What Is a Skeletal X-Ray? An X-ray is a common imaging test that allows doctors to view the inside of your body without having to make an incision. X-rays are waves of electromagnetic radiation that are absorbed differently by different tissues. Bone
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Brachydactyly
Brachydactyly Overview Brachydactyly is a shortening of the fingers and toes due to unusually short bones. This is an inherited condition, and in most cases does not present any problems for the person who has it. There are different types of brachyd
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Skeletal Limb Abnormalities
Skeletal Limb Abnormalities Skeletal limb abnormalities are problems in the bone structure of your arms or legs. Your arms and legs are commonly known as limbs. Skeletal limb abnormalities can affect one part of your limb or the entire limb. Usually
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Hypochondrogenesis
Hypochondrogenesis Definition Hypochondrogenesis is a lethal genetic skeletal dysplasia caused by a mutation in the COL2A1 gene. This condition is characterized by a severe limb and trunk shortening with a disproportionately large head. Infants with
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Marshall-Smith Syndrome
Marshall-Smith syndrome Definition Marshall-Smith syndrome is a childhood condition involving specific facial characteristics, bone maturation that is advanced for the individual's age, failure to grow and gain weight appropriate for the individual's
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Smith-Fineman-Myers Syndrome
Smith-Fineman-Myers syndrome Definition Smith-Fineman-Myers syndrome (SFMS) is a rare and severe type of X-linked inherited mental retardation. Description Smith-Fineman-Myers syndrome is also known as Smith-Fineman-Myers type mental retardation and
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Skeletal Dysplasia
What Is Skeletal Dysplasia? Skeletal dysplasia is the medical term for what most people refer to as “dwarfism”. The term is an umbrella for a group of hundreds of conditions affecting bone and cartilage growth. A child born with skeletal dysplasia wi
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Alkaptonuria
Alkaptonuria Definition Alkaptonuria is a rare, inherited disorder characterized by urine that turns dark when exposed to air, dark pigmentation of the cartilage and other tissues, and arthritis. Description Alkaptonuria (AKU) (sometimes spelled alca
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Neuraminidase Deficiency with Beta-Galactosidase Deficiency
Neuraminidase deficiency with beta-galactosidase deficiency Definition Neuraminidase deficiency with beta-galactosidase deficiency, commonly-known as galactosialidosis, is a rare inherited metabolic disorder with multiple symptoms that can include sk
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Neuraminidase deficiency
Neuraminidase deficiency Definition Neuraminidase deficiency, or sialidosis, is a rare inherited metabolic disorder with multiple symptoms that can include skeletal abnormalities and progressive neurological degeneration. Description Nomenclature Neu
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