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 Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia

Eligibility criteria:
Inclusion Criteria

          -  Parent(s) or guardian(s) consent

          -  5 to < 18 years old

          -  ACH, documented and confirmed by genetic testing

          -  At least a 6-month period of pretreatment growth assessment in Study 111-901 before
             study entry

          -  If sexually active, willing to use a highly effective method of contraception

          -  Ambulatory and able to stand without assistance

        Exclusion criteria:

          -  Hypochondroplasia or short stature condition other than ACH

          -  Have any of the following:

               -  Hypothyroidism or hyperthyroidism

               -  Insulin-requiring diabetes mellitus

               -  Autoimmune inflammatory disease

               -  Inflammatory bowel disease

               -  Autonomic neuropathy

          -  History of any of the following:

               -  Renal insufficiency defined as serum creatinine > 2 mg/dL

               -  Chronic anemia

               -  Baseline systolic blood pressure (BP) < 70 millimeters of mercury (mm Hg) or
                  recurrent symptomatic hypotension (defined as episodes of low BP generally
                  accompanied by symptoms ie, dizziness, fainting) or recurrent symptomatic
                  orthostatic hypotension

               -  Cardiac or vascular disease

                    -  Have a clinically significant finding or arrhythmia on screening
                       electrocardiogram (ECG) that indicates abnormal cardiac function or
                       conduction or Fridericias corrected QTc-F > 450 msec

          -  Have an unstable condition likely to require surgical intervention during the study
             (including progressive cervical medullary compression or severe untreated sleep apnea)

          -  Decreased growth velocity (< 1.5 cm/yr) over a period of 6 months or evidence of
             growth plate closure (proximal tibia, distal femur)

          -  Treated with growth hormone, insulin-like growth factor 1 (IGF-1), or anabolic
             steroids in the previous 6 months or treatment greater than 6 months at any time

          -  Greater than 1 month treatment with oral corticosteroids (low-dose ongoing inhaled
             steroid for asthma, or intranasal steroids, are acceptable) in the previous 12 months

          -  Planned or expected to have limb-lengthening surgery during the study period. Subjects
             with previous limb- lengthening surgery may enroll if surgery occurred at least 18
             months prior to the study and healing is complete without sequelae.

          -  Planned or expected bone-related surgery (ie. surgery involving disruption of bone
             cortex, excluding tooth extraction), during the study period. Subjects with previous
             bone-related surgery may enroll if surgery occurred at least 6 months prior to the
             study and healing is complete without sequelae.

          -  Had a fracture of the long bones or spine within 6 months prior to screening

          -  History of severe untreated sleep apnea

          -  New initiation of sleep apnea treatment (e.g. CPAP or sleep apnea-mitigating surgery)
             in the previous 2 months prior to screening

          -  History of hip surgery or hip dysplasia atypical for achondroplastic subjects

          -  History of clinically significant hip injury in the 30 days prior to screening

          -  History of slipped capital femoral epiphysis or avascular necrosis of the femoral head

          -  Abnormal findings on baseline clinical hip exam or imaging assessments that are
             determined to be clinically significant

          -  Concurrent disease or condition that would interfere with study participation or
             safety evaluations, for any reason

          -  Condition or circumstance that places the subject at high risk for poor treatment
             compliance or for not completing the study
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 5 Years old.
Subject must be at most 18 Years

Eligibility (NLI label): Contradiction