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22q11.2
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22q11.2

22q11.2
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2015003_tn?1330864621
Definition:

The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22 which is present from the time a child is conceived.

Characteristics:

Heart defects, palate differences, feeding and GI difficulties, immune system deficits, growth delay, kidney problems, hearing loss, low calcium, and other endocrine issues, cognitive, developmental and speech delays
behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.)

Evaluation should be done on these area:

Audiology, Cardiology, Child development and psychology, Cleft palate,
Ear, nose and throat, Endocrinology, Feeding / nutrition, Genetics, Immunology, Neurology, Orthopedics and Urology

Other Symptoms Include:

-constipation
-leg pain
-differences in the blood vessels in neck that lead to the brain (carotid arteries)
-bone differences, such as extra fingers, extra ribs, a missing forearm bone, and spine problems including abnormal neck bones and also abnormalities
that sometimes lead to spine curvature (scoliosis)
-spina bifida
-juvenile rheumatoid arthritis or other autoimmune disorders
-eye and vision problems
-craniosynostosis (premature closure of the fontanels or "soft spots" of the skull)
-intestinal malrotation
-diaphragmatic hernia
-Hirschsprung's disease
-tracheoesophageal fistula
-laryngeal web
-imperforate anus
-absent uterus
8 Comments Post a Comment
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620923_tn?1398277065

   Lisa what does this mean?
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Avatar_f_tn
i have posted before about 22q and had no feedback so thought if i just posted 22q11.2 it may be recognized more..have you heard of this?
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2015003_tn?1330864621
Hi Lisa,
I don't know what this disease is but when I did a search on google it showed

If you go to the following website you will get the Disease characteristics, Diagnosis/testing, Management of Disease, and Genetic counseling. http://www.ncbi.nlm.nih.gov/books/NBK1523/

Also there is a specific website for this disease called "22Q Foundation" Their website is www.22q.org/

I hope this helps. If you have any problems finding the websites, let me know and I'll help if I can.

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620923_tn?1398277065

  Never heard of it and would like to know what u r referring to....and do u feel there is a connection with this to Chiari as I know u r on the chiari forum.?
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2015003_tn?1330864621
Definition:

The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22 which is present from the time a child is conceived.

Characteristics:

Heart defects, palate differences, feeding and GI difficulties, immune system deficits, growth delay, kidney problems, hearing loss, low calcium, and other endocrine issues, cognitive, developmental and speech delays
behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.)

Evaluation should be done on these area:

Audiology, Cardiology, Child development and psychology, Cleft palate,
Ear, nose and throat, Endocrinology, Feeding / nutrition, Genetics, Immunology, Neurology, Orthopedics and Urology

Other Symptoms Include:

-constipation
-leg pain
-differences in the blood vessels in neck that lead to the brain (carotid arteries)
-bone differences, such as extra fingers, extra ribs, a missing forearm bone, and spine problems including abnormal neck bones and also abnormalities
that sometimes lead to spine curvature (scoliosis)
-spina bifida
-juvenile rheumatoid arthritis or other autoimmune disorders
-eye and vision problems
-craniosynostosis (premature closure of the fontanels or "soft spots" of the skull)
-intestinal malrotation
-diaphragmatic hernia
-Hirschsprung's disease
-tracheoesophageal fistula
-laryngeal web
-imperforate anus
-absent uterus
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620923_tn?1398277065

  Thank u for the info.
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Avatar_f_tn
hi selma,thankyou for replying..and my daughters syringomyelia is most definitely linked to her syndrome..as well as all her other complications but without a doubt it is related..its just that her 22q11.2/goldberg and shprintzen syndrome is so rare,doctors dont even know the answers..but if u look at charlieraes post..most of what is listed my daughter has and then some...as my eldest daughter did also but with heart related problems.  i know i will maybe never find answers in this life...more and more research and developement is being done..its took me so many years of fighting for answers and now i know why i havent got them...because they arent there yet...one doctor told me years ago my daughters condition should be called maria jones syndrome(her name by the way ha!).. doesnt stop me searching..or even tryin to help others xxx
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Avatar_f_tn
hi,thankyou so much for you time and help into looking into 22q11.2,from the bottom of my heart it means more than you know.. my daughter has nearly all of the conditions listed..my daughter i lost had the heart problems and the hirshbrungs also.. i posted 22q11.2 because when i look to complications on there own relating to this syndrome i dont..myself personally..find answers regarding this..eg..if i post..muscle disease,or constipation,or learning difficulties or any other conditions i go round in circles...i appreciate so much the help and advice and support i get from people on medhelp who take time to dedicate there time into helping others...its inspiring and humbling at the same time...and everytime i read a post offering help and support,it makes me feel like im worth something,and im not facing a losing battle,because there are people that care out there...im so sorry if im rambling...i guess i type the way i talk..and when i talk i talk and talk and ramble lol xx trying to cut a long story short...i appreciate people taking time out to offer help and advice an support in ther lives..means a lot xxxx
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