Spondyloepimetaphyseal dysplasia, Strudwick type

(Redirected from Dappled metaphysis syndrome)
Jump to navigation Jump to search

WikiDoc Resources for Spondyloepimetaphyseal dysplasia, Strudwick type

Articles

Most recent articles on Spondyloepimetaphyseal dysplasia, Strudwick type

Most cited articles on Spondyloepimetaphyseal dysplasia, Strudwick type

Review articles on Spondyloepimetaphyseal dysplasia, Strudwick type

Articles on Spondyloepimetaphyseal dysplasia, Strudwick type in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Spondyloepimetaphyseal dysplasia, Strudwick type

Images of Spondyloepimetaphyseal dysplasia, Strudwick type

Photos of Spondyloepimetaphyseal dysplasia, Strudwick type

Podcasts & MP3s on Spondyloepimetaphyseal dysplasia, Strudwick type

Videos on Spondyloepimetaphyseal dysplasia, Strudwick type

Evidence Based Medicine

Cochrane Collaboration on Spondyloepimetaphyseal dysplasia, Strudwick type

Bandolier on Spondyloepimetaphyseal dysplasia, Strudwick type

TRIP on Spondyloepimetaphyseal dysplasia, Strudwick type

Clinical Trials

Ongoing Trials on Spondyloepimetaphyseal dysplasia, Strudwick type at Clinical Trials.gov

Trial results on Spondyloepimetaphyseal dysplasia, Strudwick type

Clinical Trials on Spondyloepimetaphyseal dysplasia, Strudwick type at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Spondyloepimetaphyseal dysplasia, Strudwick type

NICE Guidance on Spondyloepimetaphyseal dysplasia, Strudwick type

NHS PRODIGY Guidance

FDA on Spondyloepimetaphyseal dysplasia, Strudwick type

CDC on Spondyloepimetaphyseal dysplasia, Strudwick type

Books

Books on Spondyloepimetaphyseal dysplasia, Strudwick type

News

Spondyloepimetaphyseal dysplasia, Strudwick type in the news

Be alerted to news on Spondyloepimetaphyseal dysplasia, Strudwick type

News trends on Spondyloepimetaphyseal dysplasia, Strudwick type

Commentary

Blogs on Spondyloepimetaphyseal dysplasia, Strudwick type

Definitions

Definitions of Spondyloepimetaphyseal dysplasia, Strudwick type

Patient Resources / Community

Patient resources on Spondyloepimetaphyseal dysplasia, Strudwick type

Discussion groups on Spondyloepimetaphyseal dysplasia, Strudwick type

Patient Handouts on Spondyloepimetaphyseal dysplasia, Strudwick type

Directions to Hospitals Treating Spondyloepimetaphyseal dysplasia, Strudwick type

Risk calculators and risk factors for Spondyloepimetaphyseal dysplasia, Strudwick type

Healthcare Provider Resources

Symptoms of Spondyloepimetaphyseal dysplasia, Strudwick type

Causes & Risk Factors for Spondyloepimetaphyseal dysplasia, Strudwick type

Diagnostic studies for Spondyloepimetaphyseal dysplasia, Strudwick type

Treatment of Spondyloepimetaphyseal dysplasia, Strudwick type

Continuing Medical Education (CME)

CME Programs on Spondyloepimetaphyseal dysplasia, Strudwick type

International

Spondyloepimetaphyseal dysplasia, Strudwick type en Espanol

Spondyloepimetaphyseal dysplasia, Strudwick type en Francais

Business

Spondyloepimetaphyseal dysplasia, Strudwick type in the Marketplace

Patents on Spondyloepimetaphyseal dysplasia, Strudwick type

Experimental / Informatics

List of terms related to Spondyloepimetaphyseal dysplasia, Strudwick type

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, 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 and metaphyses). The type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, 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 in X-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 of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and a foot deformity known as clubfoot.

Affected individuals have mild and variable changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) and detachment of the retina (the part of the eye that detects light and color) are also common.

Spondyloepimetaphyseal dysplasia, Strudwick type is inherited in an autosomal dominant pattern.

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 II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. 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.


References

Template:WH Template:WS