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 Safety of Vosoritide in At-risk Infants With Achondroplasia

Eligibility criteria:
Inclusion Criteria:

          -  Parent(s) or guardian(s) willing and able to provide signed informed consent after the
             nature of the study has been explained and prior to performance of any research
             related procedure.

          -  Have ACH, documented by genetic testing.

          -  Are willing and able to perform all study procedures as physically possible.

          -  Age 0 to ≤ 12 months, at study entry (Day 1). Given that any potential impact of
             vosoritide therapy on the foramen magnum is dependent on treating as early as possible
             and as long as possible while the synchondroses at the base of the skull are still
             open. For subjects > 6 months of age at enrollment, a discussion between the
             investigator and the Medical Monitor should occur with the goal of limiting the number
             of subjects in the range of > 6 months to ≤ 12 months of age.

          -  Parent(s) or caregiver(s) are willing to administer daily injections to the subject
             and complete the required training.

          -  Have evidence of CMC that "may" require surgical intervention

        Exclusion Criteria:

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

          -  Have CMC that either does not require surgical intervention (for example foramen
             magnum narrowing with preservation of the cerebrospinal fluid space) or does require
             immediate surgical intervention .

          -  Have any of the following: Untreated congenital hypothyroidism or maternal history of
             hyperthyroidism, Insulin-requiring neonatal diabetes mellitus, Autoimmune inflammatory
             disease, Inflammatory bowel disease, Autonomic neuropathy.

          -  Have a history of any of the following:Renal insufficiency, Chronic anemia,Baseline
             systolic blood pressure below age and gender specified normal range or recurrent
             symptomatic hypotension (defined as episodes of low blood pressure generally
             accompanied by symptoms eg, pallor, cyanosis, irritability, poor feeding) and Cardiac
             or vascular disease.

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

          -  Have been treated with growth hormone, insulin-like growth factor 1, or anabolic
             steroids in the 6 months prior to Screening, or long-term treatment (> 3 months) at
             any time.

          -  Have ever had prior cervicomedullary decompression surgery.

          -  Have had a fracture of the long bones or spine 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 12 Months

Eligibility (NLI label): Contradiction