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: A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia

Eligibility criteria:
Inclusion Criteria:

          -  Diagnosis of ACH, confirmed by genetic testing

          -  Age 0 to < 60 months at study entry (Day 1)

          -  At least 6-month period of pretreatment growth assessment in Study 111-901 immediately
             before study entry (cohort 1 & 2) or at least 3 months of observation prior to
             treatment (cohort 3)

        Exclusion Criteria:

          1. Have hypochondroplasia or short-stature condition other than achondroplasia (e.g.,
             trisomy 21, pseudoachondroplasia, etc.)

          2. Have any of the following:

               -  Hypothyroidism or hyperthyroidism

               -  Insulin-requiring diabetes mellitus

               -  Autoimmune inflammatory disease (including celiac disease, systemic lupus
                  erythematosus, juvenile dermatomyositis, scleroderma, etc.)

               -  Inflammatory bowel disease

               -  Autonomic neuropathy

          3. Have a clinically significant finding or arrhythmia that indicates abnormal cardiac
             function or conduction or QTc-F > 450 msec on screening ECG

          4. Have evidence of cervicomedullary compression (CMC) likely to require surgical
             intervention within 60 days of Screening as determined by the Investigator and
             informed by the following assessments:

               -  Physical exam (eg, neurologic findings of clonus, opisthotonus, exaggerated
                  reflexes, dilated facial veins)

               -  Polysomnography (eg, severe central sleep apnea)

               -  MRI indicating presence of severe CMC or spinal cord damage

          5. Subject weight < 5.0 kg (cohort 1 & 2) or < 4.0 kg (cohort 3)

          6. Treatment with growth hormone within 6-months prior to screening or prolonged
             treatment (> 3 months) at any time

          7. Any history of spine or long-bone surgery or any bone-related surgery with chronic
             complications

          8. Any history of limb-lengthening surgery or planned limb-lengthening during the study

          9. Fracture of the long bones within 6 months prior to screening
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.

Subject must be at most 59 Months

Eligibility (NLI label): Contradiction