Beyond Achondroplasia

Growing together with Clara


As you can read at the begining of the abstract of this great review:

“Research on the mutation in Fibroblast Growth Factor Receptor 3 (FGFR3) that causes achondroplasia suggests that disease results from increased signal transduction from the mutant receptor. Thus, current therapeutic strategies have focused on reducing signals emanating from FGFR3”.

But what is FGFR3?

Fibroblast growth factor receptor 3
Location: 4p16.3
Gene size: 14,976 bp

Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance.. Three alternatively spliced transcript variants that encode different protein isoforms have been described.


  1. Thank you for sharing all your analysis! What do you think of the research that came out this September?

  2. Ouch! Make sure that you wear sunscreen when you go oustide so that your potential scars do not get darker. I’ve been using Scar Zone since it has a sun protector and moisturizers. The Vitamin E is good to take internally daily and if you get the gel caps you can split one open and massage the Vitamin E goo into the scar too. It will work better that way. I also heard that Lavender Oil is good to massage into the skin. It’s a natural antiseptic and is suppose to minimize scarring. It smells good and can also be an insect repellent. You are going to have to be diligent in applying any of these treatments daily to see any results. Try to work them into your daily routine. Good Luck! Scars Suck!

    • Thank you for your suggestions. Clara is now 3,5 years old and that scar was from a decompression surgery she was submitted to when she was 9 months old.But I will keep your suggestions in mind. Best regards

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