Turner’s Syndrome is a female only genetic disorder that affects about 1:2000 baby girls.
A girl with Turners Syndrome only has one normal X chromosome rather than the usual two. This happens randomly when the baby is conceived. It isn’t linked to the maternal age.
Turners syndrome can be diagnosed during pregnancy with an invasive test, either Chorionic Villus sampling (CVS) or Amniocentesis. Otherwise a diagnosis can be made after birth.
General features include:
- Short stature. (Growth therapy treatment suggested).
- A short, wide neck.
- A broad chest and widely spaced nipples.
- Arms that turn out slightly at the elbow.
- A low hairline.
- Mouth abnormalities which may cause teeth problems.
- A large number of moles.
- Small, spoon-shaped nails.
- A short fourth finger or toe.
Associated health conditions can vary significantly between individuals and can include:
- Kidney and Urinary Tract problems (Recurring Urinary Tract Infections. High Blood Pressure).
- Hearing problems (Recurring middle ear infections. Premature hearing loss).
- Eye problems (Short sightedness. Cataracts. Droopy eyelids/Ptosis. A Squint/Strabismus).
- Coarctation of the Aorta (Specific heart problem).
- Attention and hyperactivity problems during childhood.
- Learning difficulties/Spatial awareness problems.
- Infertility (Assisted conception techniques such as egg donation and IVF may be recommended for women with Turners Syndrome who want to have children).
Most girls with Turners Syndrome have a normal level of intelligence and can lead a relatively normal and healthy life. Life expectancy is slightly reduced, but it can be improved with regular health checks to identify and treat potential problems at an early stage.
The Turners Syndrome Support Society is a UK based charity that provides information, care and support for families who have a diagnosis of Turners Syndrome.
www.tss.org.uk/