Abnormal stature can be tall or short. Based upon accurate height measurement, projected height calculation, and growth velocity, once a clinician has determined that a patient’s stature is abnormal, a probable diagnoses list must be built. Familial tall and short stature and constitutional short stature are more common than all other diagnoses. The remaining probable diagnoses are either endocrine abnormalities or genetic/chromosome disorders.
There are almost no urgent/emergent situations for advanced chronic illness which may present with additional life-threatening scenarios, and in such a case, the chief complaint or patient presentation will most likely be something other than abnormal stature.
An easy way to memorize the differentials is to remember three categories for both tall and short statures. 1) Familial, constitutional, nutrition related 2) Endocrine/metabolic disorders 3) Genetic abnormalities. Within these categories, the most common causes are familial and constitutional. Patients with endocrine/metabolic disorders usually have stigmata of the underlying endocrine pathology, such as central obesity, weight gain, and acral enlargement in cases of Cushing syndrome, hypothyroidism and gigantism, respectively. Patients with genetic disorders typically manifest related dysmorphic features. A careful physical exam can help a clinician identify several disorders, and additional lab/genetic tests can lead to the final diagnosis. A clinician should remember that patients with certain genetic/endocrine/metabolic disorders may have short or tall parents, as parents may also have similar and sometimes undiagnosed disorders. So, a clinician should not conclude the work up by declaring that the patients’ disorder is “familial” just because the parents also are short or tall. Instead, a clinician must pay careful attention to look for features associated with possible disorders to avoid anchor bias.