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Turner syndrome
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====Physical features==== [[File:Turner Syndrome 1.jpg|thumb|upright=1.2|Girl with Turner syndrome]] In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a short, webbed neck, low hairline, small chin and lower jaw, [[a arched palate|arched palate]], and broad chest with widely-spaced nipples.<ref name="percy1">{{cite book|title=A Comprehensive Guide to Intellectual and Developmental Disabilities | vauthors = Percy M, Thompson MD, Brown I, Fung WA | veditors = Wehmeyer ML, Brown I, Percy M, Fung WA, Shogren KA |edition=2nd |publisher=Brookes Publishing|location=Baltimore, Maryland|date=2016|chapter=Other Syndromes and Conditions Associated with Intellectual and Developmental Disabilities|page=297|isbn=978-1-59857-602-3}}</ref> [[Lymphedema]] (swelling) of the hands and feet is common at birth and sometimes persistent throughout the lifespan.<ref name="ejhg1">{{cite journal | vauthors = Atton G, Gordon K, Brice G, Keeley V, Riches K, Ostergaard P, Mortimer P, Mansour S | title = The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review | journal = European Journal of Human Genetics | volume = 23 | issue = 12 | pages = 1634β1639 | date = December 2015 | pmid = 25804399 | pmc = 4486366 | doi = 10.1038/ejhg.2015.41 | doi-access = free }}</ref> A number of the external manifestations of Turner syndrome are focused on the limbs, hands, and feet. Lymphedema at birth is one of the classic features of the syndrome; though it often resolves during toddlerhood, recurrence in later life is frequent, often without apparent cause. Cases where the retained X chromosome was inherited from the mother more often experience lymphedema than those where it was from the father. As a consequence of lymphedema's effects on nail anatomy, females with Turner syndrome frequently have small, hypoplastic, upturned nails. Their fingers are shorter and the hands are broad. Their feet are puffy, thicker, and swollen.<ref name="jaad">{{cite journal | vauthors = Lowenstein EJ, Kim KH, Glick SA | title = Turner's syndrome in dermatology | journal = Journal of the American Academy of Dermatology | volume = 50 | issue = 5 | pages = 767β776 | date = May 2004 | pmid = 15097963 | doi = 10.1016/j.jaad.2003.07.031 }}</ref> Shortened [[metacarpal bones]], particularly the fourth metacarpal, are a frequent finding.<ref name="jpem">{{cite journal | vauthors = Miguel-Neto J, Carvalho AB, Marques-de-Faria AP, Guerra-JΓΊnior G, Maciel-Guerra AT | title = New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome | journal = Journal of Pediatric Endocrinology & Metabolism | volume = 29 | issue = 4 | pages = 475β479 | date = April 2016 | pmid = 26812779 | doi = 10.1515/jpem-2015-0346 | s2cid = 43332484 | doi-access = free }}</ref> The body shape of individuals with Turner syndrome is frequently quite broad and stocky, as the growth deficiency is more pronounced in the length of bones than in their width. [[Scoliosis]] is common in Turner syndrome, and is seen in 40% of girls without growth hormone treatment.<ref name="Haskin Lowenstein Dermatologic Conditions in Turner Syndrome"/> Facial features associated with Turner syndrome include broad, prominent ears, a low hairline at the nape of the neck, a webbed neck, a small chin with dental [[malocclusion]], and downslanting [[palpebral fissure]]s (the opening between the eyelids). These are thought to be related to lymphedema during the fetal period, specifically to the presence and resorption of excess fluids in the head and neck region.<ref name="ajmga1" /> Neck webbing is a particularly distinctive trait of Turner syndrome, leading to many neonatal diagnoses.<ref name="jcem">{{cite journal | vauthors = Davenport ML | title = Approach to the patient with Turner syndrome | journal = The Journal of Clinical Endocrinology & Metabolism| volume = 95 | issue = 4 | pages = 1487β1495 | date = April 2010 | pmid = 20375216 | doi = 10.1210/jc.2009-0926 | doi-access = free }}</ref> The underlying [[etiology]] of neck webbing is related to prenatal blood flow issues, and even in populations without Turner's has broad health consequences; the rate of congenital heart disease in webbed neck is 150-fold higher than in the general population, while the feature is also associated with reduced height and minor developmental impairments.<ref name="jaad" /> Some women with Turner syndrome have premature facial wrinkling.<ref name="ajmga1" /> Acne is less common in teenage girls and women with Turner syndrome, though the reasons why are unclear.<ref name="Haskin Lowenstein Dermatologic Conditions in Turner Syndrome"/> [[File:Baby Turner.JPG|thumb|left|A female infant with Turner syndrome. Notice the broad chest and small chin]] Other physical features connected to the condition include long eyelashes, sometimes including [[Distichiasis|an additional set of eyelashes]], and unusual [[dermatoglyphics]] (fingerprints). Some women with Turner's report being unable to create [[Identity-based security|fingerprint passwords]] due to hypoplastic dermatoglyphics.<ref name="ajmga1" /> Unusual dermatoglyphics are common to chromosome anomalies like Down Syndrome.<ref name="ajmg2">{{cite journal | vauthors = Reed T | title = Dermatoglyphics in medicine--problems and use in suspected chromosome abnormalities | journal = American Journal of Medical Genetics | volume = 8 | issue = 4 | pages = 411β429 | date = 1981 | pmid = 7018239 | doi = 10.1002/ajmg.1320080407 }}</ref> and in the case of Turner's may be a consequence of fetal lymphedema.<ref name="ajmga1" /> [[Keloid]] scars, or raised hypertrophic scars growing beyond the boundaries of the original wound, are potentially associated with Turner syndrome; however, the association is underresearched. Though traditional medical counselling on the topic urges conservatism about elective procedures such as ear piercing due to the risk of severe scarring, the actual consequences are unclear. Keloids in Turner syndrome are particularly frequent following surgical procedures to reduce neck webbing.<ref name="ajmga1" /><ref name="jaad" /> Turner syndrome has been associated with unusual patterns of hair growth, such as patches of short and long hair. Armpit and pubic hair is often sparse, while arm and leg hair is often thick. Though armpit hair is reduced in amount and thickness, the pattern in which it is implanted in the skin is as in men, rather than as in women.<ref name="Haskin Lowenstein Dermatologic Conditions in Turner Syndrome" />
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