- Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of
bone growth that results indwarfism , characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses andmetaphyses ). The type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype ofcollagenopathy, types II and XI .The signs and symptoms of this condition at birth are very similar to those of
spondyloepiphyseal dysplasia congenita , a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished inX-ray images by changes in areas near the ends of bones (metaphyses). These changes are characteristic of spondyloepimetaphyseal dysplasia, Strudwick type.People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Curvature of the spine (
scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Changes in the spinal bones (vertebrae ) in the neck may also increase the risk ofspinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly ), severe protrusion of the breastbone (pectus carinatum ), ahi p joint deformity in which the upper leg bones turn inward (coxa vara ), and a foot deformity known asclubfoot .Affected individuals have mild and variable changes in their facial features. The
cheekbone s close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called acleft palate . Severe nearsightedness (highmyopia ) and detachment of theretina (the part of the eye that detects light and color) are also common.This condition is one of a spectrum of skeletal disorders caused by mutations in the "
COL2A1 " gene. The protein made by this gene forms type IIcollagen , a molecule found mostly incartilage and in the clear gel that fills the eyeball (thevitreous ). Type II collagen is essential for the normal development of bones and otherconnective tissue s. Mutations in the "COL2A1" gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.This condition is inherited in an
autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder."This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] "
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