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Smith-McCort Dysplasia 1
A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and is caused by homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
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.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and is caused by homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
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