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: Study of Skeletal Disorders and Short Stature

Eligibility criteria:
Patients with known or suspected skeletal dysplasias or short stature and their family
        members of any age will be recruited worldwide from diverse medical communities including
        genetics, orthopedics, ophthalmology, and pediatrics.

        DISEASE CATEGORY I:

        Individuals and family members with a suspected or an established diagnosis of any FGFR3
        disorder, type II collagen disorder, Schmid metaphyseal dysplasia, pyknodysostosis,
        proximal symphalangism, or brachydactyly type C.

        DISEASE CATEGORY II:

        Individuals and family members with a suspected or an established diagnosis of a skeletal
        dysplasia in which the disease gene is not yet known, including: Ellis van Crevald,
        brachydactyly types B and E, and cartilage-hair hypoplasia.

        DISEASE CATEGORY III:

        Individuals and family members who have previously uncharacterized systemic manifestations
        suggestive of a skeletal dysplasias, with clinical findings of: disproportionate or
        proportionate short stature; and/or cleft palate; and/or detached retina; and/or history of
        loose joints or frequent joint dislocation; and/or history of, or family history of,
        premature arthritis.

        Short Stature Category I: Individuals with generalized short stature and their family
        members. This includes adults with abnormal stature as statistically defined from
        standardized growth charts.

        Must be able to give informed consent, older children (greater than or equal to 7 years
        old) who do not give assent, or persons who are wards of the state will be excluded from
        the study.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.



Eligibility (NLI label): Entailment