Turner Syndrome - Medtick

Turner Syndrome

What is it?

Turner syndrome is a genetic disorder that only affects females including babies and adults.

  • It is a random condition when the baby is conceived in the womb.
  • In healthy females one has two X sex chromosomes (XX) in their cells, with Turner syndrome this is not the case.
  • There are two types:
    • Classic Turner syndrome – one of the X chromosomes is completely missing
    • Mosaic Turner syndrome – Most cells one X chromosome is complete and the other is partially missing or abnormal in some way, but in some cells there may be just one X chromosome or, rarely, two complete X chromosomes
  • Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty and height changes (usually between the ages of 8 and 14 years).
  • Girls with Turner syndrome are typically short in relation to the height of their parents

Cause

  • Genetic disorder:
    • Only has one normal X sex chromosome, rather than the usual two (XX).
    • Missing part or all of one sex chromosome. This means one has just one complete X chromosome.

Symptoms

(May not be as noticeable as a baby)

Babies:

Child (under 8 years old):

  • Growth rate declines after three years old?

Child (at puberty are between 8- 14 years):
(Common)

  • Shorter than average?
  • Lack of period or no menstrual bleed?
  • Infertility problems?
  • Delay in puberty and/or late in puberty?
  • May not fully develop breasts?

Other symptoms:

  • Arms that turn out slightly at the elbows?
  • Broad chest and widely spaced nipples?
  • Large number of moles?
  • Low hairline?
  • Particularly short, wide neck (webbed neck)?
  • Short fourth finger or toe?
  • Small, spoon-shaped nails?

Eyes

Cataracts

  • If a baby has loss of vision, check eyes are moving when one clicks their fingers either side of face?
  • Loss of vision affecting your daily routine?
  • Vision cloudy, blurry or misty?
  • Small clots/spots where site is not clear?
  • Vision get affected by dim light or when in sunny or bright lights?
  • Wears glasses and becoming less effective?
  • Uncomfortable in glaring bright lights?
  • Colour looks less colourful, faded or blurry?
  • Everything appears of a yellow tinge?
  • Double vision?
  • Halo vision (a circle of light around bright lights?)

Other eye conditions:

Ears

Mouth

Mouth abnormalities which can cause problems with the teeth:

Complications /Information to beware of/General tips:

This condition can lead to:

  • Abdominal conditions – particularly bleeding in the digestive system
  • Diabetes
  • Heart condition
  • High blood pressure (hypertension)
  • Female Hypogonadism
  • Hypothyroidism
  • Kidney disease
  • Kidney infections
  • Lymphedema
  • Obesity
  • Osteoporosis
  • Attention and hyperactivity problems
    • Physical over activity, such as constant fidgeting and restlessness
    • Acting impulsively, such as breaking rules or having no sense of danger
    • Short attention span and being easily distracted
  • Behavioural, social and specific learning difficulties
  • Social intelligence
    • Problems understanding social relationships
    • Difficulty to sustain friendships and leads to relationship problems in later life, both at home and at work
  • Spatial awareness and numeracy
    • Ability to understand where you are in relation to objects or other people
    • Difficulty learning or understanding maths (dyscalculia)

This condition may show similar symptom to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice


These conditions are very difficult to diagnose, a specialist opinion is required.

OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Detailed Information

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