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Chondrodysplasia Blomstrand Type
An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, is caused by autosomal recessive inheritance of mutation in the PTH1R gene.
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
An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, is caused by autosomal recessive inheritance of mutation in the PTH1R gene.
Join the Chondrodysplasia Blomstrand Type community
Talk with people who understand, share what helps, and find support from others living with chondrodysplasia blomstrand type. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.