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Acromesomelic Dysplasia 4
An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that is caused by homozygous mutation in the PRKG2 gene on chromosome 4q21.
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When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that is caused by homozygous mutation in the PRKG2 gene on chromosome 4q21.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.