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Spondylometaphyseal Dysplasia Algerian Type
A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that is caused by heterozygous mutation in the COL2A1 gene on chromosome 12q13.
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.
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Overview
A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that is caused by heterozygous mutation in the COL2A1 gene on chromosome 12q13.
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