turner syndrome

Classification and external resources 45,X karyotype - note unpaired X at lower right. ICD-10 Q96. ICD-9 758.6 DiseasesDB 13461 MedlinePlus 000379 eMedicine ped/2330 MeSH D014424 The section (intro) may be too technical for a general audience. Please help improve the section by providing more context and better explanations of technical details, even for subjects that are inherently technical.

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"[1]:550 ) encompasses several conditions, of which monosomy X is most common. It is a chromosomal disorder affecting females in which all or part of one of the X chromosomes is absent. Occurring in 1 out of every 2500 girls, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck. Girls with TS typically experience gonadal dysfunction with subsequent amenorrhea and infertility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism, ophthalmological problems, and otological concerns. [2] Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematic, and memory areas.[3] Contents [hide] 1 Symptoms 2 Risk factors 3 Incidence 4 History 5 Diagnosis 6 Prognosis 6.1 Cardiovascular 6.1.1 Cause 6.1.2 Prevalence of cardiovascular malformations 6.1.3 Congenital heart disease 6.1.4 Aortic dilation, dissection, and rupture 6.2 Skeletal 6.3 Kidney 6.4 Thyroid 6.5 Diabetes 6.6 Cognitive 6.7 Reproductive 7 Treatment 8 See also 9 References 10 Further reading 11 See also 12 External links //

Symptoms

Common symptoms of Turner syndrome include: Short stature Lymphedema (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 Webbing of the neck (webbed neck) Coarctation of the aorta Poor breast development Horseshoe kidney Visual impairments sclera, cornea, glaucoma, etc. Ear infections and hearing loss.

Other symptoms may include a small lower jaw (micrognathia), cubitus valgus (turned-out elbows), soft upturned nails, palmar 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.

Risk factors

Risk factors for Turner syndrome are not well known. Nondisjunctions increase with maternal age, such as for Down syndrome, but that effect is not clear for Turner syndrome. It is also unknown