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Bone Disorders, Paediatric Endocrinology CE/CME accredited

A relaxed discussion between two faculty focussed on real world clinical issues. Useful tips below will show how to navigate the activity. Join the conversation. Close

Paediatric growth patterns and their impact on health: Achondroplasia in focus

  • Select in the video player controls bar to choose subtitle language. Subtitles available in English, German, Japanese, Spanish.
  • Downloads including slides are available for this activity in the Toolkit
Learning Objectives

After watching this activity, participants should be better able to:

  • Explain how the mechanisms behind various bone growth control systems contribute to bone health and bone abnormalities
  • Use appropriate growth charts to detect abnormal growth patterns in children
  • Summarize the linear growth patterns, and physical and radiographic findings indicative of achondroplasia, and the impact of emerging treatments

In this activity, experts in paediatric endocrinology respond to questions from the endocrinology and paediatrics community on the normal and abnormal physiology of bone growth; detecting and assessing achondroplasia, including the use of growth charts; and the role of emerging targeted therapies in the management of achondroplasia.

This activity is jointly provided by USF Health and touchIME. read more

Target Audience

This activity has been designed to meet the educational needs of clinical geneticists, paediatric endocrinologists, paediatric orthopaedic surgeons and paediatricians involved in the management of children with achondroplasia.


USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant financial relationships are listed below. All individuals not listed have no relevant financial relationships.


Dr Nadia Merchant discloses: Advisory board/ Panel fees from Biomarin. Consultancy fees from Pfizer. Grants/research support from Biomarin.

Dr Andrew Dauber discloses: Advisory board/ Panel fees from Biomarin, Novo Nordisk and Pfizer (relationship terminated). Consultancy fees from Novo Nordisk, TYRA (relationship terminated) and WebMD (relationship terminated). Grants/research support from Biomarin.

Content reviewer

Kaitlyn Rechenberg, PhD, MPH, APRN has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Sola Neunie has no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact



This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 CreditTM into European CME credit (ECMEC) should contact the UEMS (

Advanced Practice Providers

Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 03 August 2022. Date credits expire: 03 August 2023.

If you have any questions regarding credit please contact

This activity is CE/CME accredited

To obtain the CE/CME credit(s) from this activity, please complete this post-activity test.

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  • Select in the video player controls bar to choose subtitle language. Subtitles available in English, German, Japanese, Spanish.
  • Downloads including slides are available for this activity in the Toolkit

Topics covered in this activity

Bone Disorders / Paediatric Endocrinology
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Paediatric growth patterns and their impact on health: Achondroplasia in focus
0.75 CE/CME credit

Question 1/4
Which of these statements best describes some of the regulatory effects of FGFR3 in osteogenesis during typical growth?

CNP, C-natriuretic peptide; FGFR3, fibroblast growth factor receptor-3; NPR-2, natriuretic peptide receptor-2.

FGFR3 is a receptor tyrosine kinase that negatively regulates growth plate activity and linear bone growth. FGFR3 acts by inhibiting proliferation and/or terminal differentiation (hypertrophy) of growth plate chondrocytes. These events, as well as degradation and vascular invasion of hypertrophic cartilage, occur sequentially in the growth plate and are tightly coordinated to ensure linear bone growth.


FGFR3, fibroblast growth factor receptor-3.


Klag KA, Horton WA. Hum Mol Genet. 2016;25:R2–8.

Question 2/4
A 3-year-old infant has been referred by their primary care physician to your specialist achondroplasia clinic. Which of the following would you consider when tailoring an individualized management plan for this child?

According to recent recommendations from the International Achondroplasia Consensus Statement Group, parents of infants with achondroplasia should be provided with syndrome-specific growth charts and a growth parameters register (e.g. height, weight and head circumference) to support management and follow-up. Consideration of child and family perspectives to tailor appropriate support for those directly or indirectly affected by achondroplasia is also encouraged. 


Savarirayan R, et al. Nat Rev Endocrinol. 2022;18:173–89.

Question 3/4
In your patients with achondroplasia, which of these anthropometric measurements would you take regularly to assess developmental milestone attainment?

Anthropometric data are valuable objective indicators of attained size and physical growth in children. CDC/WHO growth charts have been developed as sources of age-stratified anthropometric reference data to aid monitoring of growth and developmental milestone attainment in children and adolescents.1 

Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with body proportions that differ from average stature counterparts.2 

Recommended anthropometric measures for regular assessment in achondroplasia include arm span, sitting height, crown–rump length, head circumference and segmental lengths, as these develop at altered rates and proportions compared with average stature population ranges.1–5


CDC, US Centers for Disease Control and Prevention; WHO, World Health Organization.


  1. Kuczmarski RJ, et al. Vital Health Stat. 2002;11(246):1–190.
  2. Neumeyer L, et al. Am J Med Genet A. 2021;185:401–12.
  3. Fryar CD, et al. Vital Health Stat. 2021;3(46):1–35.
  4. Merker A, et al. Am J Med Genet A. 2018;176:1819–29.
  5. Maternal and Child Health Bureau. Available at:  (accessed 23 June 2022).
Question 4/4
There are several therapies in development for the treatment of achondroplasia. Which of the following treatment classes are included in therapies in development?

CNP, C-natriuretic peptide; MAPK, mitogen-activated protein kinase; TKI, tyrosine kinase inhibitor; RANK, receptor activator of nuclear factor kappa-B ligand.

Fibroblast growth factor receptors (FGFRs) belong to the tyrosine kinase family and regulate various biological processes. Many genetic conditions are caused by deregulation in the FGFR-signalling network. Variations in the FGFR3 gene are the cause of achondroplasia; they enhance the receptor’s tyrosine kinase activity and activate mainly the downstream MAPK pathway.

Several drugs targeting the overactive FGFR3 receptor and downstream signalling pathways are being developed to treat achondroplasia. Current classes under investigation include anti-FGFR3 antibodies, FGF2 aptamers, soluble FGFR3 decoys, agents targeting the CNP receptor, tyrosine kinase inhibitors and agents that downregulate phosphorylation of ERK in the MAPK pathway.


CNP, C-natriuretic peptide; ERK, extracellular signal-regulated kinase 1; FGF2, fibroblast growth factor 2; FGFR3, fibroblast growth factor receptor-3; MAPK, mitogen-activated protein kinase.


Högler W, Ward LM. Wien Med Wochenschr. 2020;170:104–11.

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