4.

Turner syndrome

Description:
Turner syndrome (TS) occurs when one of the X chromosomes in females
is either missing or incomplete. The most common symptoms are short
stature and gonadal dysgenesis, which can cause incomplete sexual
development and ovarian failure and infertility. As of right now, there is
no known cause of TS.
Signs and symptoms
Of the following common symptoms of Turner syndrome, an individual
may have any combination of symptoms and is unlikely to have all
symptoms.

• Short stature

• Lymphedema (swelling) of the hands and feet of a newborn.

• Broad chest (shield chest) and widely spaced nipples

• Low posterior hairline

• Low-set ears

• Reproductive sterility

• Rudimentary ovaries gonadal streak (underdeveloped gonadal

structures that later become fibrotic)

• Amenorrhea, the absence of a menstrual period

• Increased weight, obesity

• Shortened metatarsal IV

• Small fingernails

• Characteristic facial features

• Webbed neck from cystic hygroma in infancy

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 • Aortic valve stenosis

• Coarctation of the aorta

• Bicuspid aortic valve (most common cardiac problem)

• Horshoe kidney

• Visual impairments- sclera, cornea, glaucoma, etc.

• Ear infections and hearing loss

• High waist-to-hip ratio ( the hips are not much bigger than the waist)

• Attention deficit hyperactivity disorder

• Non verbal learning disability

Features of Turner Syndrome

• Epicanthal folds
• Low posterior hair line
• Cubits valgus
• Broad chest with widely spaced nipples
• Cardiovascular anomalies
• Hyperconvex fingernails
• Pigmented nevi
• Sex chromatin