Turner syndrome or
Ullrich-Turner syndrome encompasses several chromosomal conditions, of which monosomy X
is the most common. It occurs in about 1 out of every 2500 female births.Some sources say 1 out of every 5000. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional; in rarer cases a second X chromosome is present but abnormal, while others with the condition have some cells with a second X and other cells without it. A normal female karyotype is labeled 46,XX; individuals with Turner syndrome are 45,X0. In Turner syndrome, female sexual characteristics are present but generally underdeveloped
Symptoms Common symptoms of Turner syndrome
include:
Short stature
Lymphoedema (swelling) of the hands and feet
Broad chest (
shield chest) and widely-spaced nipples
Low hairline
Low-set ears
Reproductive sterility
Rudimentary ovaries Gonadal Streak (underdeveloped gonadal structures)
Amenorrhea, or the absence of a menstrual period
Increased weight, obesity
Shield shaped thorax of heart
Shortened metacarpal IV (of hand)
Small fingernails
Characteristic facial features Web of skin between the neck and shoulders
Constriction of aorta (of heart)
Poor breast development
Other symptoms may include a small lower jaw (micrognathia), cubitus valgus (turned-out elbows), a webbed neck, soft upturned nails, Simian crease and drooping eyelids. Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.