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Hajdu-Cheney Syndrome
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that is caused by heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
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 bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that is caused by heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
Join the Hajdu-Cheney Syndrome community
Talk with people who understand, share what helps, and find support from others living with hajdu-cheney syndrome. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.