What is Turner Syndrome? – Clinical Features & Dental Effects

There is a wide range of developmental disabilities that affect the health and well-being of an individual. Turner syndrome is one of the unique developmental disorder. Turner syndrome is a genetic defect or a chromosomal disorder that mainly affects females around the world. This is because it involves a complete or partial loss of the second sex chromosome in some or all the cells.

Typically, women suffering from this disorder exhibit short stature, learning difficulties, and emotional distress. However, in the majority of cases, the intelligence level is not affected. The diagnosis of Turner syndrome includes a unique test called karyotyping. It is used to identify the defect accurately. Radiographic studies also play a role in determining the symptoms of turner syndrome.


Usually, treatment includes hormonal therapy to allow the proper growth and development of the individual. Preventive dental care is crucial to minimize the risk of tooth loss. Today’s article will highlight the critical features of Turner’s syndrome. Furthermore, we will discuss the oral manifestations of this unique developmental deformity.

What is Turner syndrome?

Turner syndrome is also known as –

  • 45 X syndrome
  • Gonadal dysgenesis
  • Bonnevie-Ullrich-Turner syndrome

Typically, every human body consists of 46 chromosomes that build up the genetic material of an individual. The X and Y chromosomes determine the sex of a person – XY denoting male gender, and XX signifies the female gender. Turner syndrome is a genetic disorder that leads to an abnormality of the X chromosome. It is also referred to as the monosomy X syndrome. The prevalence of Turner syndrome is approximately one in every 2000 females. (1)

Usually, women with Turner syndrome live a healthy life. However, they may require consistent medical supervision to prevent complications.

What causes Turner syndrome?

Turner syndrome is typically caused by the absence or alteration of one X chromosome copy in the female. Some of the genetic modification associated with turner syndrome include –

  • Monosomy – complete elimination of one X chromosome
  • Mosaic Turner syndrome – this leads to error in cell division that results in some cells with two X chromosome copies and others with only one X chromosome copy. (2)

What are the symptoms of turner syndrome?

Some of the characteristic symptoms of turner syndrome include –

Changes in physical appearance

  • Swollen hands and feet during infancy
  • Short stature
  • Wide neck and broad chest (3)
  • Low set of ears
  • Increased risk of obesity
  • Drooping eyelids
  • Flat feet

Systemic health changes

  • Infertility
  • Heart defects
  • Loss of hearing
  • High blood pressure
  • Dryness of the eyes
  • Ear infections
  • Curved spine – scoliosis (4)

The symptoms may appear early in infancy or later in adolescence. The presence of one or more symptoms makes the female susceptible to Turner syndrome.

What are the oral manifestations of Turner syndrome?

Turner’s syndrome also has a significant effect on the dental development of the individual. Some of the common dental abnormalities seen in Turner syndrome include –

  • Delayed tooth eruption
  • Changes in the tooth crown and root development
  • Development of small mandible
  • Malocclusions such as increased overjet, overbite, distal molar occlusion and anterior open bite (5)
  • Small-sized teeth both in primary and permanent dentition
  • The increased cranial base angle
  • High and narrow palate
  • Thin enamel and dentin
  • Low tongue position
  • Cleft palate

How is Turner syndrome diagnosed?

Usually, a prenatal genetic test can help the doctor to determine the presence of Turner syndrome. Karyotyping is a type of gene test used to identify the chromosomal defect in the mother’s body. This test is often considered as the confirmatory test for Turner syndrome. (6) Additionally, other tests may also be performed to look for physical symptoms of turner syndrome such as –

  • Examination of physical appearances such as the wide and webbed neck, broad chest, short stature, swelling of the hands and feet
  • Blood tests to check the sex hormone levels
  • ECG – echocardiogram to identify heart defects
  • Pelvic exam
  • Ultrasound study
  • MRI scans

What is the treatment for turner syndrome?

There is no cure for turner syndrome. However, preventive treatments may be provided to resolve issues with short stature, sexual development, and learning difficulties.

  • Frequent monitoring of the blood pressure and thyroid gland development is necessary to determine immediate medical care
  • Ear infections are treated to minimize the risk of hearing loss
  • Hormonal therapy is crucial to allow the proper growth and development of the child. A regular injection of growth hormones can add an extra four inches to the height. This treatment usually starts around nine years of age (7)
  • Estrogen and progesterone replacement therapy help to strengthen sexual development and minimize the risk of osteoporosis.
  • Counseling and psychological therapy are necessary to ease the mental state of the individual.
  • Educational support helps to tackle the learning difficulties and memory skills
  • Dental treatments and preventive dental therapy help to maintain good oral health and hygiene. Restorative therapies can be used to replace missing teeth.

Take away message

Turner syndrome is a unique chromosomal defect that causes complete or partial loss of the X chromosome in all or some cells in the body. Typically, females are affected by this disorder, with a prevalence of around one in every 2000 females.

The clinical symptoms of turner syndrome may be divided into the alteration of physical and systemic characteristics. Some of them include – short stature with a wide neck and broad chest. Heart defects and learning disabilities are also associated with Turner syndrome.


Additionally, dental abnormalities such as irregularly shaped teeth, malocclusions, high palate, cleft palate, small mandible, and delayed tooth eruption can be seen in Turner syndrome. Diagnosis is confirmed by gene testing, and preventive care is followed to help in proper growth and development of the individual.


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