Approximate incidence of major clinical abnormalities in Turner syndrome

Abnormalities	Frequency (percent)
Skeletal growth disturbances
Short stature	95 to 100
Growth failure	90 to 95
Increased upper-to-lower segment ratio	>90
Defective dental development, malocclusion	Up to 75
Characteristic facies with micrognathia	60
Cubitus valgus	50
Kyphosis	50
Short neck	40
Genu valgum	35
High-arched palate	35
Widely spaced nipples, broad chest	30 to 35
Short metacarpals	35
Scoliosis	10 to 20
Madelung deformity	5
Lymphatic obstruction
Low posterior hairline	40
Edema of hands/feet	20 to 30
Characteristic dermatoglyphics	30
Webbed neck	25
Earlobe anomalies (eg, rotated)	15 to 20
Nail dysplasia	10
Germ cell chromosomal defects
Infertility	95
Ovarian failure	90
Gonadal dysgenesis	85 to 90
Gonadoblastoma	5

Abnormalities	Frequency (percent)
Other features
Cardiac malformations	Up to 50
Elongated transverse aortic arch	40 to 50
Aortic valve abnormalities (primarily, bicuspid aortic valve)	15 to 30
Coarctation of the aorta	7 to 17
Pulmonary venous abnormalities	13 to 15
Systemic venous abnormalities (such as persistent left superior vena cava)	8 to 13
Ventricular septal defects	1 to 4
Atrial septal defects	1 to 2
Coronary artery abnormalities	Up to 2
Hypoplastic left heart	<1
Electrocardiographic abnormalities (minor)	50
Prolonged QTc interval	21 to 36
Renal and renovascular anomalies	20 to 30
Collecting system malformations	Approximately 20
Horseshoe kidney	10
Hypertension	30
Ocular abnormalities
Myopia or hyperopia	20 to 50
Strabismus	15 to 30
Amblyopia	>15
Ptosis	10 to 30
Ears and hearing
Recurrent otitis media	50 to 70
Sensorineural hearing loss	50 (by adulthood)
Conductive hearing loss	10 to 40
Cholesteatoma	5
Skin
Multiple pigmented nevi	25
Vitiligo	5
Alopecia	5
Autoimmune
Thyroiditis (rate increases with age)	15 to 30
Celiac disease	6
Inflammatory bowel disease	4

References:

Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51:147.
Sylvén L, Hagenfeldt K, Bröndum-Nielsen K, von Schoultz B. Middle-aged women with Turner's syndrome. Medical status, hormonal treatment and social life. Acta Endocrinol (Copenh) 1991; 125:359.
Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991; 20:121.
Gøtzsche CO, Krag-Olsen B, Nielsen J, et al. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994; 71:433.
Kim HK, Gottliebson W, Hor K, et al. Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population. AJR Am J Roentgenol 2011; 196:454.
Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology. Endocr Rev 2012; 33:677.
Bondy CA, Van PL, Bakalov VK, et al. Prolongation of the cardiac QTc interval in Turner syndrome. Medicine (Baltimore) 2006; 85:75.
Bondy CA, Ceniceros I, Van PL, et al. Prolonged rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome. Pediatrics 2006; 118:e1220.
Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007; 92:10.

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