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: Genetic Causes of Growth Disorders

Eligibility criteria:
-  INCLUSION CRITERIA:

        If a subject meets any one of these criteria, he/she will potentially be eligible to
        participate:

          -  Short stature (height less than - 2 SDS), either currently or previously - or

          -  Tall stature (height greater than + 2 SDS) or

          -  Bone age delay (greater than 3 years) or

          -  Bone age advancement (greater than 2.5 years or greater than 1.5 years with short
             stature) or

          -  Predicted adult height < - 2SD

          -  Growth disorder that was treated promptly, thus maintaining the child s height within
             the normal range, e.g. a subject with congenital growth hormone deficiency or multiple
             pituitary hormone deficiency of unknown genetic etiology who received growth hormone
             treatment beginning in early life or

          -  Family member of subjects who meet any of the above criteria

          -  Subjects have a current height at a low normal percentile but has short adult height
             prediction based on bone age (> 5 inches shorter than mid-parent height)

        In addition, subjects are only eligible, if, the pedigree suggests a monogenic inheritance,
        and, in the judgement of the investigators, there is a reasonable likelihood of identifying
        a novel gene responsible for the condition.

        EXCLUSION CRITERIA:

          -  A non-genetic disorder or condition, either congenital or acquired, that explains the
             growth abnormality, for example, pituitary injury, chronic thyroiditis, whole body
             irradiation, or celiac disease.

          -  In the opinion of the investigators, there is an established diagnosis of a genetic
             disorder or condition that explains the growth abnormality and for which the molecular
             genetic etiology has already been identified, for example, SHOX deficiency,
             hypochondroplasia, or Noonan syndrome.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers



Eligibility (NLI label): Contradiction