• General considerations

• 1 out of every 2,000-2,500 female live births
• Almost all (95%) have
• Short stature
• Loss of ovarian function
• Caused by the absence of a set of genes from the short arm of one X chromosome
• Single X chromosome
• 75-80% single X is contributed by mother
• X-O = Female (Turner Syndrome)
• X-X-Y=Male (Klinefelter Syndrome)
• Hearing loss due to otosclerosis is common in adults

• Appearance

• Short stature
• Absent adolescent growth spurt
• Average adult height is 4 feet 8 inches
• Loss of SHOX gene necessary for growth of long bones
• Short fingers (4^th metacarpal)

Short 4th metacarpal in Turner Syndrome. A line (white line) drawn across the
heads of the 4th and 5th metacarpals will normally not transect a portion of the head of the 3rd
metacarpal unless the 4th metacarpal is short (see list below).
For the same photo without line, click here

Short List of Short Metacarpals

Thumb

Myositis ossificans progressiva

Fanconi’s Syndrome

Holt-Oram Syndrome

Cornelia de Lange Syndrome

Fourth Metacarpal

Idiopathic

Turner’s Syndrome

Pseuodhypoparathyroidism

Pseudopseuodhypoparathyroidism

Clinodactyly (inward curvature 5th finger)

Down Syndrome

Carpenter’s Syndrome

• Short toes
• Cubitus valgus – increased carrying angle (arms turn outward at elbow) the elbow
• Webbed neck
• Widely spaced nipples (shield crest)
• Excessive number of nevi
• Higher incidence of hip dislocation in infants
• Scoliosis in up to 10%
• Cutis laxa – loose folds of skin especially around neck

• Puberty and reproduction

• Loss of ovarian function usually in early childhood
• Delayed puberty
• Estrogen therapy is frequently used to induce changes of puberty

• Cardiovascular

• Coarctation of the aorta in 5-10%
• Bicuspid aortic valves in 15%
• Increased risk of aortic dissection
• Hypertension
• May be due to coarct or renal abnormalities or occur in absence of both

• Renal

• Horseshoe kidney

• Osteoporosis

• High incidence due to inadequate circulating estrogen

• Diabetes

• Type II (Insulin-resistant) diabetes
• Thyroid
• About 1/3 are hypothyroid, often with an enlarged thyroid

• Intelligence

• Normal intelligence