Achondroplasia Resource Library

Here you will find resources from symposia, webinar, brochures, patient videos and publications.


ESPE 2022 BioMarin Symposium

Achondroplasia: Importance of early diagnosis
Genetics in Practice for Paediatricians, Melbourne 2023


International Consensus Statement on the diagnosis & management of achondroplasia


Achondroplasia Education Brochure

An overview of the condition, including its underlying cause, potential multisystemic impact, and the importance of monitoring achondroplasia specific growth to optimise care.

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Patient Video

Parents share their real-life experience on emotional journey after their child is diagnosed with Achondroplasia – Thinara’s story (2 years)


International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

This first International Consensus Statement was developed to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide, in order to optimise their clinical outcomes and quality of life. (Ravi et al, 2022)

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Growth parameters in children with achondroplasia:  A 7-year, prospective, multinational, observational study

This observational study was undertaken to collect baseline growth parameters in children with achondroplasia before enrollment to interventional trials of vosoritide, and to delineate the natural history of this condition. (Ravi et al, 2022)

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Medical complications in children with achondroplasia

This retrospective study reports contemporary rates of medical complications in an Australian population of children. (Armstrong et al, 2022)

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Australian guidelines for the management of children with achondroplasia

The Australian guidelines for the management of children with achondroplasia aimed to provide core care recommendations for families and clinicians, facilitate communication between specialist, local teams and families and support delivery of high-quality care. (Tofts et al, 2023)

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Products available in Australia

BRINEURA® (cerliponase alfa)

BRINEURA® is indicated for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, also known as tripeptidyl peptidase 1 (TPP1) deficiency.

KUVAN® (sapropterin dihydrochloride)

KUVAN® is indicated for the treatment of hyperphenylalaninemia (HPA) in sapropterin-responsive adult and paediatric patients with phenylketonuria (PKU) or tetrahydrobiopterin (BH4) deficiency.

NAGLAZYME® (galsulfase (rch))

NAGLAZYME® is indicated as long term enzyme replacement therapy in patients with Mucopolysaccharidosis VI (MPS VI, Nacetylgalactosamine 4- sulfatase deficiency, Maroteaux-Lamy syndrome).

VIMIZIM® (elosulfase alfa (rch))

VIMIZIM® is indicated for the treatment of MPS IVA (Mucopolysaccharidosis type IVA, morquio A syndrome).

VOXZOGO® (vosoritide)

VOXZOGO® is indicated for the treatment of achondroplasia in patients 2 years of age and older whose epiphyses are not closed. The diagnosis of achondroplasia should be confirmed by appropriate genetic testing.