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Distal Arthrogryposis Type 1C
A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that is caused by heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.
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 distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that is caused by heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.
Resources
Join the Distal Arthrogryposis Type 1C community
Talk with people who understand, share what helps, and find support from others living with distal arthrogryposis type 1c. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.