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Trichorhinophalangeal Syndrome Type II
A syndrome that is caused by mutation of the EXT1 and TRPS1 gene which causes multiple exostosis along with short stature and cone-shaped ends in epiphysis. The disease causes sparse scalp hair, causes thin upper lip, ca
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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 syndrome that is caused by mutation of the EXT1 and TRPS1 gene which causes multiple exostosis along with short stature and cone-shaped ends in epiphysis. The disease causes sparse scalp hair, causes thin upper lip, ca
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.