DiGeorge Syndrome
Last reviewed by Dr.Mary on August 9th, 2018.
What is DiGeorge Syndrome?
This is a disorder that is caused by a defective chromosome – to be exact chromosome 22. This causes poor development of different body systems. This syndrome is also known as “22q11.2 deletion syndrome”.
Problems medically linked with DiGeorge syndrome include poor immune system function, heart defects, cleft palate, a parathyroid gland that functions poorly as well as other behavioral problems.
The severity and number of problems linked with DiGeorge syndrome will vary greatly. Any individual with DiGeorge syndrome will need therapy from many specialists in a diversity of fields.
Symptoms
The symptoms and signs of this syndrome may vastly vary in severity and type. This disparity is contingent on what bodily structures are affected as well as how severe the deficiencies seem to be. Some symptoms and signs can be seen immediately at birth, but many others might not develop until far along in infancy or early childhood.
Symptoms and signs can consist of some mixture of the following:
- Tiring easily or weaknesses
- Bluish skin because of poor circulation of oxygen-rich blood
- Failure to gain weight
- Failure to thrive
- Muscle tone that is poor
- Infections that are frequent
- Problems feeding
- Shortness of breath
- Spasms or twitching around the hands, arms, throat or mouth
- Development delays, for example, sitting up, rolling over, or other milestones
- Learning difficulties
- Learning delays
- Delayed in development of speech
- Cleft palate or other problems with palate
- Ears that are low-set
- Eyes that are wide-set
- Groove in upper lip that is narrow
Since numerous disorders can cause the symptoms and signs of DiGeorge syndrome, it is crucial to obtain a prompt and correct diagnosis if your baby or child is showing any symptoms and signs of this disorder.
DiGeorge Syndrome Diagnosis
A conclusion of DiGeorge syndrome is made mainly on the findings of a lab test which detects the “deletion in chromosome 22”. The physician will order this test as well as a grouping of other medical tests.
Since some heart deficiencies are usually linked with DiGeorge syndrome, merely the occurrence of this defect is apt to have the physician to order the lab test for a “chromosome 22 deletion”.
Healthcare team
Since DiGeorge syndrome results in numerous problems as well as disorders, numerous specialists will need to be involved in diagnosing specific disorders, advising therapy or treatments and offering care. The team approach will change as the needs of your child change. Some of the specialists in the care team can include:
- Pediatrician or children’s specialist
- Immunologist or specialist in the immune system
- Cardiologist or specialist in heart problems
- Endocrinologist or specialist in hormonal disorders
- Specialist in maxillofacial and oral surgery – for surgery on situations such as cleft palate
- Occupational therapist specialising in therapy to aid the child in the development of everyday skills
- Therapist specializing in speech
- Therapist specialising in developmental therapy to assist the child in the development of social skills, interpersonal skills as well as age-appropriate behaviors
- A pediatric psychiatrist or psychologist
Treatment
There is not any cure for this syndrome. Therapy may normally correct any problems that are critical – such as a defect in the heart or calcium levels that are too low. Medical care for mental health, as well as developmental or behavior difficulties, are where the real challenge lies and the conclusions are unpredictable.
Therapy and treatments for an individual with this syndrome can include intercessions for the below-listed conditions:
Hypoparathyroidism
This condition can normally be treated by calcium supplements, low-phosphorus diet as well as supplements of vitamin D. If sufficient amount of parathyroid tissue is undamaged, it is probable that the child’s parathyroid gland will usually begin the regulation of phosphorus and calcium levels without needing a special diet.
Thymus gland function that is limited
If the individual has selected thymic functioning, infections will probably be recurrent but not automatically severe. These illnesses – normally frequent ear infections as well as colds – are treated as with any other normal child. Majority of children with the limited thymic function will still need to follow the approved schedule for vaccines. With these children, the immunity system functioning will get better as the child grows older.
Thymus dysfunction that is severe
If thymus dysfunction is severe or if there is no thymus, the child is susceptible to all type of infections. Treatment for this requires a thymus tissue transplant, cells that are taken from bone marrow or disease-fighting blood cells that are specialized.
Defects of the heart
Most with this syndrome need surgery to mend as well as correct circulation of blood.
Cleft palate
This, as well as other abnormalities of the palate, can be repaired surgically.
Development overall
The child will profit from a wide variety of therapies, from occupational therapy to speech therapy as well as developmental therapy. In the US, most early intervention therapy programs offer all kinds of treatment and are normally obtainable through any state’s health department.
Care of mental health
Medication for mental health can be advised if the child is at some time identified with hyperactivity disorder/attention-deficit, schizophrenia, depression or other mental health disorders.
DiGeorge Syndrome Prognosis
The prognosis for any child with DiGeorge syndrome is variable with many infants dying from devastating seizures, infections or failure of the heart within the first year. A 1-month mortality rate of 55%, as well as a six-month mortality rate of 86%, has been conveyed. Prognosis is mostly linked to the heart defects and their severity as well as the fractional presence of the thymus gland.
Life Expectancy
For those individuals who survive infancy and early childhood, the life expectancy for an individual with DiGeorge syndrome is that they can live a normal lifespan. In the majority of cases, they will need to have constant care and will need to be in treatment for different medical problems. The burden on the families is enormous, but there are support groups for caretakers that offer support and help.
DiGeorge Syndrome Pictures
please help. my daughter has di george and is now 23 years old. she is in supported living and has totally gone “off the rails” i am screaming for help but no one is listening. she is so vulnerable, gullable and just wont listen to our advice , has a social worker who i dont think understands her condition and i feel is fobbing us off. i feel that if i dont get her some real help and understanding soon she will be in in danger of her own behaviour> please someone help me .
I have a 20 year old son with digeorge, he is not yet gone off the rails…he is however not very understanding of our over protection of him. We have been researching and trying to find friends for him that we can trust and it has been a challenge. If you want to discuss further, please feel free to contact me.
I have a cousin with Digeorge, she did go off the rails and was very gullable and some people took advantage of her which was very sad to watch. Very happy to say it was a phase and it just took her a while to realise she was being taken advantage of.
She is now 27 married with a child of her own and holding down a job, running a home and more importantly coping so well that were all very proud of her.
i am 42 and have 12 children 7 with di george and i am always in trouble and very lonely inside 9 of my children are in care and adopted as they thought i couldnt cope as although me being angry most the time no 1 understood i wouldnt hurt my own i do undwestand its really hard best wishes 2 u kat
I am 41 yrs old and my first grandson was diagnosed with digeorge syndrome among other things. He also has tretralogy of fallot with absent pulmonary valve and enlarged pulmonary arteries. He was full term and the most beautiful baby in the nursery but also the sickest. My daughter is having a horrible time as well as am I. When she was younger and had an ear infection then I took her to the doctor and fixed it. When she got cut then i put a bandaid on it and fixed it. well i cant fix this for her and its tearing me apart. Please pray for me and my family during these hard times. Little Brayden is only 10 days old today. My daughter hasn’t gotten to hold him, see his eyes, or even hear him cry. keep us in your heart and prayers!!!!!!
I have a daughter of 7 months with DiGeorge. I am finding it super hard to cope. She was born part of a twin but she is the only one that was affected by the condition I feel on a roller coaster of emotions. I cry most days. I feel excluded by the doctors that care for her. I feel stress and very low.
I have a friend and her 18 year old daughter has DiGeorge. She seemed to “go off her rocker” and I began to research more recent data on this syndrome. I found that 30% of young adults with DiGeorge develop some type of sychosis and that 25% develop schizophrenia. With this news, my friend took her daughter for psychiatric help and things have finally begun to improve. Hang in there all!!
My 12 year old granddaughter is in foster care and by chance, we have just learned that there is a chance she has Digeorge. Misty has the soft palet abnormality and the surgeon who is going to repair the hole in her palet told us that she might have the Digeorge syndrome. My daughter had the soft palet defect and it was repaired 40 years ago. I am so dismayed over this. We never heard of this syndrome before and it might explain why my daughter was diagnosed with schizophrenia when she was 28 years old. I wish someone had given me information about Digeorge so that we might have been more diligent about stopping her from getting pregnant as now her daughter is possibly being affected by this. Does anyone know of any support groups out there?
I have a six year old daughter with DiGeorge Syndrome. I have found that the best way to cope with the struggles associated with the disease is becoming educated. There is a ton of information out there and many studies that are being done. More specifically, the Children’s Hospital of Philadelphia (CHOP) is doing a lot of work in this area, and even though we have found local doctors who are invested in my daughters care, the information that we receive from CHOP is invaluable in addressing many of her health issues as well as a lot of the developmental problems. She improves every day and has really done a great job considering that hand she has been dealt. I am sure we have more struggles down the road, but we know what to look for, and she knows that regardless of the problems she has, we expect a lot out of her, and she does a pretty darn good job delivering on her end.
Hi, I have a daughter called Casey who will be 4 soon who’s got DiGeorge Syndrome. She had heart surgery in 2009 and needs go for regular checkups. She cannot talk much but can do a lot of BSL. She’s very clever, is a good kid, got a heart of gold and very loveable. The worst part of Casey’s syndrome is when she gets poorly which is every few months which can be minor or can be very serious, due to this it can be very hard and make you feel lonely, and it can be very tiring.
I have a son who is now 22 and was born with DiGeorge Syndrome incomplete, he is from my first marriage. He finished high school and now is in vocational rehab studying “Automobile Collision” his teachers say he will not be able to paint but is pretty sharp with computers and I pray that one day he will do a life on his own. He does help around the house, cooks, cleans, washes the cars. God is our strength!
I have a brother that is 24 years old with diGeorge syndrome. We were told that he would never live past the age of 7 years old. Proudly I can say he has maintained a job, has friends, and has a lot of different hobbies. He also has Epilepsy. For about seven weeks now things have took a turn for the worse, he is having memory loss similar to a person with Alzheimer’s, very bad 10 headaches (On a scale of 1-10, 10 being the worst), sleeping all the time, he’s not his self anymore. The doctors are puzzled because they haven’t figured out what’s causing it. I need any information/help opinions something. We are all so worried, and it only seems to be getting worse. I will greatly appreciate any and all opinions and advice..
Thanks
Santosndaniella11 at yahoo
My grandson was born 27th December 2012 and has just been diagnosed with digeorge syndrome. I have been estranged from my daughter and so it is very difficult. It sounds a very big battle for those who care for them. I do not know how my daughter is going to cope.
10 years I gave birth to two of the greatest gifts TWIN DAUGHTERS one born normal and one special one born with DiGeorge. As the days pasted sitting in the NICU waiting for answers from the medical staff,days turned to weeks,weeks turned into month and our journey begin.A journey filled with love. During the first year of our daughters life we spent 4 days a week at numerous doctors and specialists.Tests tests and more tests.To say it was stressful is putting it lightly but even now 10 years later I am so thankful for our bundle of love,for she has taught me more,patience.We just take it one day at a time and are blessed to have that ONE MORE DAY. I am not saying that I don’t have bad days because I do but the good always out weigh the bad ones.
I am a 44 year old women who was just diagnosed with di-George syndrome. It explains a lot of my past health problems. I am not sure what to think about all this information that I was informed of his week. I applied for disability because I cannot work any longer. I have a masters in criminology and enjoy nothing but researching the legal system. I feel like my life is over and what do I have to look forward to with being in contact with judges ,clerks, attorneys, I feel like its to late for me and living in Idaho doesn’t help much, when doctors here have no clue about this syndrome. anyone have any advise?
IdahoParalegal2012 at gmail dot com
I have a 21 yr old daugter w DiGeorge Syndrome, I know about the “going off the rocker thing”.
She is very vulnerable, so sweet at times, so strong willed, want’s to be in dependent, no way that can happen. trouble with time and money calculation.Something as simple as standing in the hot sun melting with a perfectly good shade tree right next to her. Just can’t connect the two.
Otherwise EXTREMELY capable with social media and computers in general.
With all the creeps out there I had to become a dictator about online profile dating, posting photos and over-sharing. Of course, I am perceived to be her barrier to independence. I just hope to god some smooth-talking pimp or other con artist gets in her ear. so vulnerable!
VSD, IAA, No Thymus. all fixed at birth. Emergency, life threatening aortic anuerysm at age 18.
My love and embrace to all of you on this site and your children!!
We have a son Paul with Die George Syndrome. He is 28rs of age. He, does get very anxious and unsettled, and can make him becoming challenging. He is in a care home now, as he needs constant 24 hours support 7 days a week. We, have found, what helps, is for his care workers, to ensure he has a full, planned day , with choices of activities. Some days he doesn’t want to go out or do activities, but if he is encouraged, once he is out doors, he usually settles down, and ends up enjoying himself. We also found, a very healthy diet, filled with, lots of fresh fruit and veg, and just a few treats.i think what is very important , is for contact with mum and dad. Also , fore the health professionals, and psychiatrist to monitor regularly , the medication etc.We also found our son loves music, he loves Rock and Roll, and the Beatles. We bought him a guitar, and he strums it whilst listening to his favorite music. Keep talking to the professionals.
My Son is 10 months-old, he had surgery on one of his eyes. He had it done because they said he has strabismus. So 3 months ago they did some genetics test on him and the results said that he has DiGeorge Syndrome. How do I cope with this?? Please help me!
My fiance’s daughter is 7 with digeorge. Since I’ve known her in the last 2yrs shes exhibited severe and irritating behaviors. No-one has the patience for it. She has severe ADHD and strives all day long with made up drama to get a reaction good or bad from us. She believes all the attention should be on her and no-one else and out of 5 ADHD drugs we tried NONE OF THEM WORKED. Her lying for attention is serious because it tends to get someone else in trouble for no reason. What I find odd is the fact she is displaying a severe amount of manipulation to get what she wants. VERY SNEAKY and sinister. SHE even goes so far as acting like she doesn’t know how to do something..acting helpless on purpose so you will do it. SHE WILL NOT PLAY WITH ANY TOYS EVER this is punishment to her instead she stalks us everywhere we go asking the same questions over and over again. SHE ALSO says she is hungry from breakfast to dinner never stopping yet when its made will refuse to eat sometimes. Now she is stealing. simple directions over and over and the next day she has forgotten what we’ve been saying. I believe she has severe psychiatric issues coming into play and it worries me because this is taxing on all of us. No-one wants to babysit her and everyone talks about how bad she is. Its terrible I have a new born son in the house and she cries and demands more attention than he does…good luck finding a doctor who truly understands digeorge because we haven’t.
I have a 20 year old son with digeorge syndrome. Very tough emotionally on the family! Tough for him! He wants to be “normal” but realizes he is “different”. This causes lot’s of depression and anxiety. He wasn’t diagnosed until age 15, so it has been a real journey. He graduated high school, in a basic curriculum and has worked for 2 years. As ages, his mood is more depressed and he is more isolated. He has severe anxiety and insomnia. Needs daily naps and is tired most of the time. He has never slept well and has restless leg syndrome. He has good verbal skills, but has a poor working memory. This leads to a lot of his irritability! He is very interested in computers, video games and movies. He has difficulty doing activities outside his interests and this further isolates. He is fairly independent, can drive and work, thank God! Most healthcare providers do not have any experience, so it is really important to understand the aspects of this disorder.
I have a friend who has a 5 year old who has diGeorge. He is already out of control. She is ready to have a break down. Husband doesn’t help her. She can’t turn her back on him .what would you suggest to help her?
My grandson Dilon will be born in Aug of 2013, he has been diagnosed with DiGeorge syndrome, passed on from my daughter. I never heard of this nor has my daughter ever been tested for DiGeorge, until now. The doctors found abnormalities with baby Dilon’s heart. Which started this process of genetic testing. I live over 2000 miles from my daughter, BUT I will be there for the birth of my grandson Dilon. All I can say is that I love my girl and my unborn grandson so very much and my heart is just breaking of the thought that my daughter should never have any more children. I am HOPING that the Doctors at Pittsburgh Children’s Hospital can fix baby Dilon’s heart and he has no other difficulties from DiGeorge Syndrome.
My son is 26 years of age. After years and years of medical tests, medical practitioners, hospitals, therapists, specialists, psychiatrists, etc.lots of money, patience, wrong handling of him, misinterpretations, fighting between me and my wife, and a very unhappy child and much more, it was given to us that he is suffering from di-george. He has developed schizophrenia which end up normally in heavy outbursts and constantly seeing things etc.Me and my wife has decided to take full care of him.My household is a mess and I really don’t know if we will make it. Besides Rouan we are also looking after my mother in law who got Alzheimer’s. She is 86 years of age.I am residing in Hartbeespoort and work in Rustenburg, one hours drive from work daily. I am hiking to work.
My heart is broken for my wife, and Rouan who never understood why people are treating him differently. He is a very unhappy and frustrated man today.
We need a miracle, so please pray.
I have DiGeorge, I am 31 years old and am very healthy and happy now. When I was a child I was sick a lot with pneumonia though. I have a newborn son who was just diagnosed. I didn’t think I could have children as I had gynecologic issues as well, but he is my miracle baby. He has no major health issues now, and I am very thankful. Now we will look closely at his progress every year, but he will grow to be strong and healthy with our help. Just wanted to let people on here know that with help, and hope, it is possible to be happy and healthy with this diagnosis. The one thing my son’s health worker said that stuck out for me is that he is his own person, not necessarily just the diagnosis.
My grand daughter has DiGeorge Syndrome. She is a year old. I am looking for support groups in the Coeur d’Alene, Id or Spokane, Wa area. Can someone help me? I am desperate and my children need some help and encouragement. My email….lizphil413 at roadrunner dot com
My son will be 11 this Sept. He has Digeorge Syndrome, Asthma, Adhd hyperactivity, Congenital heart defect . 3 surgeries already.. waiting on 4. Are there any support groups? Feel all alone… gets frustrating at times with no one to talk to who understands.
I have a child named kayliez, she has DIGEORGE SYNDROME. I am really scAred of the outcomes.I’m at the library now and I’m trying to research anything about her condition. I am afraid she may not care for her self in the future. I am willing to prepare for anything but I also need help and support from others who know more about this condition. please email me at marangellycastro @ gmail dot com
I work for a patient w/ Di Georges syndrome and he is such a wholehearted kid…I met him at 2 and he wasn’t walking, talking or eating well….He is 6 now and running, talking my head off, eating better and doing VERY well in school…He does show signs of delays and behavior problems but for the most part he is a very happy kid….The most problems we have is that he gets sick a lot in the winter and then has febrile seizures….I have read all the comments and want to keep in touch with anyone w/ interest regarding learning more on this condition….Families please just pray for patients with them because it is hard to deal with but I get such a blessed feeling working with him….. carmelsundie at yahoo dot com
I just found out today that one of my daughter I a set of twins is diagnose with DGS and my wife is having a breakdown.. Please give me some advice as to myself and how to comfort her in these hard times ..also please give me some things to look for as I will take advice from someone with experience… Thanks