Mosaicism affects height in Turner syndrome; a large population sample drawn from the UK Biobank found women with 45,X0 karyotypes to have an average height of 145 cm (4 ft 9 in), while those with 45,X0/46,XX karyotypes averaged 159 cm (5 ft 2+1⁄2 in). The strength of the association between Turner syndrome and short stature is such that idiopathic short stature alone is a major diagnostic indication.Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. When girls with Turner syndrome begin school, their height is usually still not remarkably unusual; marked short stature becomes obvious in mid-childhood. In undiagnosed preadolescents and adolescents, growth delay may be mistaken for a side effect of delayed puberty and improperly treated. Short stature in Turner syndrome and its counterpoint, tall stature in sex chromosome polysomy conditions such as Klinefelter syndrome, XYY syndrome, and trisomy X, is caused by the short-stature homeobox gene on the X and Y chromosomes. The absence of a copy of the SHOX gene in Turners inhibits skeletal growth, resulting both in overall short stature and in a distinctive pattern of skeletal malformations including micrognathia (small chin), cubitus valgus (abnormal forearm angles), and short fingers.When Turner syndrome is diagnosed in early life, growth hormone therapy can decrease the degree of short stature.
More than half of individuals with Turner syndrome have some form of eye disorder. This may be a consequence of shared genes on the X chromosome in both eye and ovary development. Nearly half of cases have hyperopia or myopia, usually mild. Strabismus, or misalignment of the eye, occurs in around one-fifth to one-third of girls with Turner syndrome. As with strabismus outside the Turners context, it may be treated with glasses, patching, or surgical correction. Esotropia, where the eye turns inwards, is more common than exotropia, where it turns outwards. Ptosis, or a drooping eyelid, is a common facial manifestation of Turner syndrome; it usually has no appreciable impact on vision, but severe cases may limit visual range and require surgical correction. The rate of red-green colourblindness in Turner syndrome is 8%, the same as in men. This is due to red-green colourblindness being an X-linked recessive condition; in people with a single X chromosome, whether normal males or Turner females, only a single mutated X is necessary for symptoms. Red-green colourblindness may be underdiagnosed in the Turner context, as the rarity of the condition in females reduces the likelihood of screening, and practitioners may not connect that the karyotype of Turner syndrome increases the risk from the female baseline. Autoimmune
Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population. Specific autoimmune disorders linked to Turner syndrome include Hashimotos disease, vitiligo, psoriasis and psoriatic arthritis, alopecia, and celiac disease.