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 Multi-center, Longitudinal, Observational Study of Children With Achondroplasia

Eligibility criteria:
Inclusion Criteria:

          1. Legally authorized representative is willing and able to provide written, signed
             informed consent (with a written assent from the child when appropriate per local
             requirements)

          2. Willing and able to comply with study protocol per investigator judgement

          3. Clinical diagnosis of achondroplasia (confirmed by the investigator)

          4. Age between 0 to 8 years old at enrollment

          5. Able to stand without assistance (if the child is 24 months or older)

        Exclusion Criteria:

          1. Have received chronic treatment (> 3 months) of human growth hormone (hGH) or other
             medicinal products intended to affect stature or body proportionality at any time

          2. Have received any dose of medicinal products intended to affect stature or body
             proportionality within the previous 6 months of screening

          3. Have received any investigational medicinal product or device intended to affect
             stature or body proportionality at any time

          4. History or presence of injury or disease of the growth plate(s), other than ACH, that
             affects growth potential of long bones

          5. History of any bone-related surgery that affects growth potential of long bones, such
             as orthopedic reconstructive surgery and osteotomy (foramen magnum decompression, and
             laminectomy with full recovery are allowed with minimum of 6 months of bone healing.
             Limb-lengthening with full recovery is allowed with a minimum of 12 months of bone
             healing.)

          6. Have forms of skeletal dysplasias other than achondroplasia or medical conditions that
             result in short stature or abnormal bone growth [such as severe achondroplasia with
             developmental delay and acanthosis nigricans (SADDAN), hypochondroplasia, growth
             hormone deficiency, Turner syndrome, pseudoachondroplasia. uncontrolled
             hypothyroidism, uncontrolled diabetes mellitus, autoimmune disease requiring
             corticosteroid therapy, inflammatory bowel disease, and chronic renal insufficiency]

          7. History or presence of malignant disease, other than basal cell epithelioma/carcinoma
             or completely resected squamous skin cancer with no recurrence for 12 months per
             medical records
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.

Subject must be at most 8 Years

Eligibility (NLI label): Entailment