Patient case (clinical description): A 3-year-old girl is brought to the clinic by her parents for assessment of her short stature. Physical examination reveals short limbs and a relatively large head. She has a flat nasal bridge and a small midface. The girl's father exhibits similar physical features; however, her mother looks normal. The genetic testing reveals an autosomal dominant point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene consistent with achondroplasia in both father and the child. The girl has not received any treatment yet, and it is her first visit after immigration to the US. The other mental and developmental examinations are unremarkable.

Patient's own account: I just brought my little 3-year-old girl to the clinic to have her checked up by the doctor. I was worried sick because she was smaller than her classmates. The lovely doctor performed a physical exam and she told me that she has short limbs and a larger head. My girl also has a flat nasal bridge and a small midface. My baby just has the face of her father, unlike me! They performed some genetic testing on my child and my husband and found out that both my husband and her have a mutation of the FGFR3 gene, which led the doctor to diagnose them with dwarfism. My baby never received any treatment and it was our first visit to the doctor since we arrived in the US. The other tests regarding her mental and physical development were perfectly fine.

Clinical trial: Lifetime Impact Study for Achondroplasia

Eligibility criteria:
Inclusion Criteria:

          1. Individual with a documented diagnosis of achondroplasia based on:

               1. Genetic confirmation of achondroplasia and/or

               2. Clinical diagnosis of achondroplasia (clinical examination and/or radiological
                  assessment)

          2. ≥ three years of age at the time of enrollment

          3. Has the cognitive and linguistic capacities necessary to complete questionnaires in
             the language of his/her country (and/or parents/legally acceptable representatives, as
             applicable)

          4. Agrees to participate in the study and has read, understood, completed and signed:

               1. Informed Consent Form (ICF) - for adult subjects

               2. Informed Assent Form (IAF) - for minor subjects, accompanied by a parental ICF
                  completed by their parents/legally acceptable representatives. The age at which
                  the minor subjects sign the IAF will be subject to local requirements.

          5. Has medical records available for the three years prior to the date of enrollment.

        Exclusion Criteria:

          1. Currently participating, or participated in the last six months, in

               1. a clinical trial of a medicinal product or medical device or

               2. other non-clinical or low interventional studies

          2. Currently participating or has participated in any BioMarin study at any time.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 3 Years old.
Subject must be at most 100 Years

Eligibility (NLI label): Entailment