Complete Trisomy 22

Facts on Complete Trisomy 22

Heather has Complete Trisomy 22. There are many chromosome 22 disorders, but Complete or Full Trisomy 22 is by far the most rare.   

• Complete Trisomy 22 occurs when an extra (third) copy of chromosome 22 is present in every cell of the body, where there should normally only be two copies. Cases of complete (or full) Trisomy 22 are very rare. 
• Most affected individuals with Complete Trisomy 22 die before or shortly after birth due to severe birth defects. The average life expectancy, IF born alive, is four days.  
• Complete Trisomy 22 is the second most common finding in miscarriages after Trisomy 16.
•  Survival beyond the first trimester of gestation is very rare.
•  Only 1 in 30,000-50,000 is born alive. 

The syndrome causes severe malformations. Despite the poor prognosis for this syndrome, we do know Heather Faith & one other angel are current survivors of this and have a HAPPY LIFE!

CLINICAL FEATURES MAY INCLUDE:

**Indicates that Heather has this feature:

• microcephaly**
• abnormal ears**
• webbed neck**
• cardiac abnormalities**
• long fingers
• kidney problems (missing, extra, or underdeveloped kidneys)**
• growth restriction**
• cleft palate/lip**
• mental delay**
• flat nasal bridge**
• excess neck skin
• hypospadias
• anal stenosis**
• clinodactyly of fifth fingers**
• abnormal finger/toe nails**
• cyanosis
• preauricular pits/tags**
• preauricular sinus
• imperforate anus/rectal abnormalities**
• rocker bottom feet
• finger like thumbs
• epicanthal folds
• vascular malformations
• gastrointestinal malformations**
• seizures
• hypotonia

However, as you can see, very few of these feature are visible. All we see is our precious little girl!

There is very little information available about Complete Trisomy 22 as there are only two current live cases.  If you are interested in more information, please click on the links below:

http://www.c22c.org/t22.htm

 

http://en.wikipedia.org/wiki/Trisomy_22