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: Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.

Eligibility criteria:
Inclusion Criteria:

          1. Written informed consent is obtained from the children's parent(s) / legal guardian(s)
             before any study-related activity is carried out

          2. The child is able to provide written informed assent, where this is required according
             to national legislation, before any study related activity is carried out

          3. The child has been diagnosed as having achondroplasia documented by clinical diagnosis

          4. The child is between 0 years and 10 years of age, inclusive, on the date of consent /
             assent

          5. The investigator has considered the family and prospective participating child being
             able to comply with the study procedures

        Exclusion Criteria:

          1. The child has a diagnosis of hypochondroplasia or any short stature condition other
             than achondroplasia (eg, spondyloepiphyseal dysplasia congenital [SEDC],
             pseudoachondroplasia, trisomy 21)

          2. The child has any medical condition that may impact growth or where the treatment is
             known to impact growth, such as but not limited to hypothyroidism or hyperthyroidism,
             insulin-requiring diabetes mellitus, autoimmune inflammatory disease (including celiac
             disease, systemic lupus erythematosus [SLE], juvenile dermatomyositis, scleroderma,
             and others), autonomic neuropathy, or inflammatory bowel disease

          3. Treatment in the previous 12 months prior to consent and assent with growth hormone,
             insulin-like growth factor 1 (IGF-1), anabolic steroids, or any other drug expected to
             affect growth velocity

          4. Any surgery that affects the growth plate of the long bones that is planned, or has
             occurred in the past 18 months

          5. Participation in any interventional study (investigational product or device) for
             treatment of achondroplasia or short stature

          6. Has had bone-related surgery impacting assessment of anthropometric measurements or is
             expected to have it during the study period. Children with previous limb-lengthening
             surgery may enroll if surgery occurred at least 18 months prior to the date of
             consent/assent and healing is complete without sequelae as determined by the
             investigator

          7. Has any condition that in the view of the investigator places the child at high risk
             of poor compliance with the visit schedule or of not completing the study.

          8. Any concurrent disease or condition that in the view of the investigator would
             interfere with study participation
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.

Subject must be at most 10 Years

Eligibility (NLI label): Entailment