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Short-Rib Thoracic Dysplasia 18 with Polydactyly
An asphyxiating thoracic dystrophy that is caused by homozygous mutation in the IFT43 gene on chromosome 14q24.
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 asphyxiating thoracic dystrophy that is caused by homozygous mutation in the IFT43 gene on chromosome 14q24.
Resources
Join the Short-Rib Thoracic Dysplasia 18 with Polydactyly community
Talk with people who understand, share what helps, and find support from others living with short-rib thoracic dysplasia 18 with polydactyly. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.