Achondroplasia
from OrphaChat — a Rare Disease Podcast Hosted by RCH
Achondroplasia is an autosomal dominant condition caused by FGFR3 mutations, impairing bone growth. Features include short stature and macrocephaly. Management involves multidisciplinary care for risks like spinal stenosis, plus emerging molecular therapies or surgery.
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This episode is 19 minutes long.
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This episode was published on February 4, 2026.
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