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Spondyloepimetaphyseal Dysplasia ( Strudwick Type). Emily Walls & Zach Witherspoon. Symptoms. Born with a short stature Shortened trunk and shortened limbs Abnormally curved lower back P rogressive near sightedness M uscle weakness Curved spine Problems with vision C lub foot

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Spondyloepimetaphyseal dysplasia strudwick type

Spondyloepimetaphyseal Dysplasia(Strudwick Type)

Emily Walls

&

Zach Witherspoon


Symptoms
Symptoms

  • Born with a short stature

  • Shortened trunk and shortened limbs

  • Abnormally curved lower back

  • Progressive near sightedness

  • Muscle weakness

  • Curved spine

  • Problems with vision

  • Club foot

  • Arthritis at a young age


Causes
Causes

  • Strudwick Type is a mutation of gene COL2A1

  • The mutation is found on

    chromosome 12.

  • This genetic disorder is

    autosomaldominant


Diagnosis
Diagnosis

  • X-rays may be used to detect it, but it will be pretty noticeable at birth.

  • Genetic counseling

  • Parental testing can be done to see if they are carriers.


Advances in medicine
Advances in Medicine

  • Orthopedic care can be given throughout the lifetime of the affected person

  • Early surgical intervention to correct club foot

  • Hip replacement is sometimes warranted in adults

  • Hearing should be checked and ear infections closely monitored (tubes may need to be placed in ears)



Impact
Impact

  • Strudwick type is crippling on the whole family of the affected person. They have to take care of the diseased person and they take them to therapy and help them with everyday tasks.


Bibliography
Bibliography

  • http://ghr.nlm.nih.gov/condition=spondyloepimetaphysealdysplasiastrudwicktype

  • The Gale Encyclopedia of Genetic Disorders Volume 2 M-Z 2002


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