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Chromosome 4q Deletion Syndrome

What is Chromosome 4q Deletion Syndrome?

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome.

 

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome.
Acknowledgement of Chromosome 4q Deletion Syndrome has not been added yet.
Prevalence Information of Chromosome 4q Deletion Syndrome has not been added yet.
Synonyms for Chromosome 4q Deletion Syndrome has not been added yet.
Most 4 q deletions are "de novo", i.e. happening randomly near the time of first cell division after conception. A small percentage of cases are inherited, and for reasons not fully understood, normally functioning parents may have severely affected children, either because they are lacking a translocated piece, or because of environmental issues during gestation or early childhood.
There are many symptoms and characteristics that affect people with Chromosome 4q Deletion Syndrome. Low muscle tone is very common, as are gastrointestinal reflux, hearing issues, vision issues, large head, small feet, turned in pinkies, flat bridge of nose, slight epicanthic folds, low set rotated ears, "funny" feet (they bend in a strange place or have overlapping toes or are particularly flat or rocker-bottom). Short limbs compared to torso size are also not unusual, short wide hands and feet are also common.
Name Description
Abnormalities of the hands and feet Hands and feet may be shorter and wider than normal, "tiny feet" are very common. Toes may bend at funny places (the second joint bending down for example) or overlap.
Growth deficiency after birth Reflux and coordination issues may make sucking and eating difficult, and even fully nourished children may not grow very well on a normal diet. Breastfeeding children with 4q deletions is very challenging but has been done, bottlefeeding is not generally much easier.
Structural heart defects Heart defects appear to be very dependent on the specific genes involved in the deletion. For example, most children with (del)4q21.1-21.3 do not have heart issues.
Malformations of the skull and facial region Large head, craniostenosis, wide set eyes, small facial features, distinctive nose (wide, flat, high bridge), thin lips, small or receding chin.
Hypotonia and ataxia Low muscle tone and poor muscle control due to an error in signaling between the brain and the muscle can contribute to global delays.
Most often dysmorphic features will prompt a pediatrician or other doctor to order genetic testing. Some children are diagnosed at or near birth, others are diagnosed years later. Most children with 4qdeletion look "mostly" normal to the casual observer, the markers are a little subtle. It is not possible to determine by looking at someone whether they have 4q deletion syndrome, but visual appearance may be just different enough to prompt doctors to order tests.
Diagnostic tests of Chromosome 4q Deletion Syndrome has not been added yet
Most treatments are symptomatic, but it is important that all children with 4q deletion syndrome have testing done for metabolic abnormalities. Many children (even those without a frank deficiency) will benefit from use of Coenzyme Q10 (doses range from 20 mg/kg to 5 mg/kg depending on response and type of supplementation.) Other treatments that have been helpful include Carnitine (For a child with a test result showing very low carnitine) and R-Lipoic-Acid (for any child with "metabolic symptoms" such as low tone). Multivitamin supplementation may be helpful to many. Some children with 4q deletions show signs of reflux, treatment of that may help growth issues. CoQ10 seems to help both reflux and growth issues in some children. Some children also show symptoms of problems with citric acid, it is suspected that this may be due to problems with the Kreb's Cycle. Restricted citric acid diets have been helpful for some children. Some common foods which include citrates are: Most infant formulas. Most multivitamins. The obvious (citrus foods) Oral medications (topical ibuprofen is one alternative, tylenol suppositories are another for pain meds. Watch carefully for inhaled medications, there may be idiosyncratic reactions to epinephrine due to the citrates use to buffer it.) Symptoms of citrate problems include severe rashes, breathing issues (following inhaled citrate). It is inadvisable to restrict diet without evidence of a problem, but if your child is having issues with diaper rash that won't respond to treatment, do consider citrates as a culprit. This may also explain problems post surgery, as most surgeries involve use of oral medications that contain citrates for flavor.
The best source of information on prognosis comes from rarechromo.org's member's pamplet section, and Dr. Strehle's research paper (which can be found online through google or in the files section of the yahoo group). Those documents combined with personal experience and talking to other families are the background for the following: In general, delays are endemic, in many children, most even, receptive language is better than expressive, and children may never have much functional expressive language. Early sign language and speech therapy, plus alternative communication methods may mitigate this somewhat, but oral motor skill issues combined with a fundamentally different brain process mean that language is a challenge for most children, and "lost language" even more of a problem. Some children may develop vocabulary and lose it, often learning and losing the same words over and over again. The "official" research is pretty grim, citing a 70% mortality by age two. In our support group, we've seen two deaths out of approximately 80 families, both children who died were (del) 4q21.1-21.3. However, there are at least 5 other children with this deletion who are currently healthy, and the cause of deaths were not similar for both children. In any event, the death rate, though tragic, appears to be lower, not absent, but lower for our current families than the (somewhat out of date) research would indicate. Prognosis is highly variable. We see kids who are just a little delayed, but go to a mainstream school program and learn to talk and walk just a little behind schedule. More typical seems to be to crawl sometime after the first year, walk sometime between age 2 and age 5. Some children do not sit up, crawl or walk until much older. Most parents of older children (teens and young adults) report puberty being especially traumatic, the communications issues become very frustrating then and acting out may require some medication to control behavior according to most sources. Autism is often diagnosed in kids with 4q deletion, there is new research indicating there may be a gene that causes autism in girls on the long arm of the fourth chromosome. Autistic symptoms may be atypical, but are very common. We are told that most children with 4q deletions will require lifelong help and support. All that said, they seem to be particularly charming and engaging children, all behavior issues aside, and we parents on the yahoo group have dubbed our kids the "4 q-ties" because they are so darned cute.
Name Description
Amy Love them, enjoy them. . . they are always reminding you of the real meaning of life!!
Jenrose Supplements (CoQ10 and R-lipoic acid especially, but also including Omega 3 fatty acids and multivitamin) seem to have made a huge difference in my daughter's energy level and her attempts to communicate. They are not a cure, but they sure do make a big difference. Melatonin helps us with sleep issues, we use a very small does (250 micrograms!). We make use of all early intervention help available.
Rebecca Be patient and always let them know what is going to happen ahead of time. Focus on their strengths and celebrate these. Our daughter has motor planning issues so she requires us to physically help her to do new movements/tasks. After a couple of assisted efforts she is then able to do it independently. Learning through observation does not really work for her. Provide them with opportunities to develop independence. Our little girl is showing us she is much more capable than we give her credit for. Place them in a school system that focuses on and promotes social/emotional development over everything else. Our girl attends a Montessori school and is thriving! At 4 and a half she becoming quite the independent little miss! :) Love, love, love them :)
Rebecca Be patient and always let them know what is going to happen ahead of time. Focus on their strengths and celebrate these. Our daughter has motor planning issues so she requires us to physically help her to do new movements/tasks. After a couple of assisted efforts she is then able to do it independently. Learning through observation does not really work for her. Provide them with opportunities to develop independence. Our little girl is showing us she is much more capable than we give her credit for. Place them in a school system that focuses on and promotes social/emotional development over everything else. Our girl attends a Montessori school and is thriving! At 4 and a half she becoming quite the independent little miss! :) Love, love, love them :)
References of Chromosome 4q Deletion Syndrome has not been added yet.
4q28.3 deletion Created by Lynn Mccoy
Last updated 27 Jun 2018, 05:26 AM

Posted by Lynn Mccoy
27 Jun 2018, 05:26 AM

Posted by Lynn Mccoy
27 Jun 2018, 05:25 AM

We recently found out that my son has an interstitial deletion on 4q28.3

Anyone else have the same?

We would like to know if this testing service would be helpful for you Created by Angel D. Sevilla
Last updated 20 Jun 2018, 11:54 PM

Posted by Angel D. Sevilla
20 Jun 2018, 11:53 PM

Hello! My name is Angel and I collaborate with Mendelian, a company devoted to help patients with undiagnosed rare diseases to get the right diagnosis.

We are developing a new testing service for undiagnosed patients and I would like to hear from the community if you find it useful and how we can improve it. You can learn more about it on our site:

https://www.mendelian.co

13.1-21.1 Deletion Created by Ozgur
Last updated 15 Jun 2018, 09:00 PM

Posted by Ozgur
15 Jun 2018, 09:00 PM

Hi,

My daughter (13 months old) was diagnosed with 4q 13.1-21.1 deletion last week. Unfortunatelly,  nobody even the doctors provided us any source or information about this disorder. I have been searching since then and here I am. I know even with the same deletion it may create different problems. So far my baby has developmental delays, low muscle tone and growth delay. Is there anyone out there that would like to share some information and their stories? I am not an optimistic person but I love my baby so much and I would like to help her as much as I can.

4q 21.1 deletion Created by Amber097
Last updated 4 Apr 2018, 07:11 PM

Posted by elliestrong
4 Apr 2018, 07:11 PM

Good Afternoon! my daughter was also diagnosed with 4q21 deletion syndrome in December 2017. i would love to communicate with you as i have never met anyone with this condition as it is so rare! when she was diagnosed we were told she made #10 in the world to have been diagnosed with such a rare disorder! i would love to compare stories. you can contact me personally as well at bbjpguilbeault.15@gmail.com 

I am also very sorry of the passing your son. 

I hope you reach out to me as i would like to get more education and resources if you have any and whatever i have to share i will do the same!

Thank you and take care!

Kayla (Rhode Island)

Posted by Amber097
20 Jun 2016, 09:56 PM

Hello all My daughter was recently diagnosed with this deletion about two weeks ago. She was born small and they had no answers on why so the neonatologist sent her blood down for a microarray. We've seen a geneticist and they don't have any answers, nor do they seemed concerned with her. For this typical deletion I can not find any information. I had a son who passed of sids in 2015 and I'm wondering if he had the same deletion.

4q33 Created by simmonshope45
Last updated 29 Dec 2016, 10:04 AM

Posted by aline
29 Dec 2016, 10:04 AM

Olá, tudo bem? queria saber se você pode me passar seu e-mail, preciso muito conhecer mais sobre a síndrome 4q33, meu e-mail: LINEW1984@gmail.com

Posted by aline
27 Dec 2016, 01:35 PM

eu quero sim, desde já agradeço. Meu email: LINEW1984@gmail.com

Posted by simmonshope45
26 Dec 2016, 09:33 PM

Olá, meu nome é Esperança. Eu moro na Georgia, USA. Não sou fluente em português. Esta é parte da mensagem é de um tradutor. Eu sei saudações básicas e como me apresentar. Vou ajudá-lo a aprender mais sobre a síndrome. Se você quiser conversar podemos trocar e-mails se você quiser.

View Full Thread (2 more posts)
4q facebook Created by MRG10810
Last updated 26 Dec 2016, 07:37 PM

Posted by aline
26 Dec 2016, 07:37 PM

https://www.facebook.com/profile.php?id=100011624465153 Bela'rt artes em papel

Posted by huchlee
26 Dec 2016, 06:34 PM

Hola Aline. cual es tu facebook? Hay varias aline costa.

Posted by aline
26 Dec 2016, 06:29 PM

olá, voce poderia me adicionar ao grupo? aline costa

View Full Thread (23 more posts)
4q 14 to 16.1 deletion Created by Lulu
Last updated 17 Nov 2016, 09:21 AM

Posted by Lulu
17 Nov 2016, 09:21 AM

Does anyone have a child with 4q 14-16.1 deletion? Love also to hear any advice you have just in general :) All the best

4q27 deletion Created by Nomeolvides
Last updated 16 Sep 2016, 05:44 AM

Posted by Nomeolvides
16 Sep 2016, 03:30 AM

Hi We've recently discovered that our son has deletion of 4q27. Is there anyone else with the same issue? The doctors told us, that they weren't able to find any similar cases.

4q34 Western Australia Created by melaniegray1986
Last updated 12 Jun 2016, 06:49 AM

Posted by melaniegray1986
12 Jun 2016, 06:49 AM

Hi Rebecca I have been to Perth a few times since our last chat but it was only ever for a quick trip (PMH grommets, PMH cleft palate, PMH speechy), but I am still keen. Baby #3 is due in October, but my brother is getting married in Dunsborough in December, so maybe a catch up around then would be great :-) Will put in my diary and contact you closer to the time! We are just picking a heap of watermelons all heading for the Perth market! Till next time. Cheerio Mel

Posted by Becca12
8 Jul 2015, 06:55 AM

Hi Mel, I live in Fremantle, WA. My daughter is 5 and has 2 deletions in chromosome 4 - around 31 and 32 (can't remember exactly off the top of my head). I would love to meet up if you are ever in Perth? Rebecca

Posted by melaniegray1986
8 Jul 2015, 06:25 AM

Hi Liane Would love to chat. You (and others) could reach me through www.ceresfarm.com.au Look forward to it. Mel

View Full Thread (2 more posts)
4q13.3 Deletion Created by Nlacroix
Last updated 26 May 2016, 12:12 AM

Posted by LakeLili
26 May 2016, 12:12 AM

Hi! Welcome to the board! I am the parent of an 11-yr old boy with a break at 4q34.3-35.2. Tom wasn't diagnosed until he was 7-1/2yrs old as his symptomology is quite mild. Tom's primary issues relate to global hypotonia which impact his bowels most severely. He also has paralytic ileus and mega colon. Its terrific that you have got your son into a mainstream school. We chose to homeschool Tom after it became apparent that the schools were unwilling to deal with his bowel issues. I have just recently joined the 4q Facebook page and found that really useful as well. Best wishes for a great summer.

Posted by Nlacroix
24 May 2016, 09:16 PM

Hello. Just discovered this group and wanted to share our experience and maybe connect with other parents of C4qDS kids. We have a 5 year old with a deletion on 4q13.3 and has lost 2 genes known to be associated with causing genetic diseases, however he has not shown any signs that he is affected by it. He is a very happy and healthy child with no visible 'problems' other than his small stature. He weighs less than 35lbs and is quite small. A recent bone-age test measured him as 3 years. He has been diagnosed with Global Developmental Delay. This past year was his first year in school (Kindergarten), which he took to surprisingly well. He had had trouble integrating with pre-school. Although he has some trouble learning and is behind the other children, he has been progressing steadily. Interestingly, there are some areas where he shows exceptional skills. His fine-motor skills are very acute and he is developing exceptional artistic abilities. His deletion may also contribute to some other quirks. When concentrating, or enjoying an activity he will make a (sometimes very loud) droning noise, almost like a humm, or Eeee sound. He also has a speech impediment that can make it difficult to understand him sometimes, although this is improving. And when he was younger he had some teeth problems and had to have caps put on a couple of his teeth. Breast feeding was likely a contributor to his teeth problems though. Also, he is having difficulty with toilet training and still wears a diaper or pullup throughout the day. He's generally healthy, other than the occasional cold or flu, which he seems slightly more prone to. In most ways he is just like any other kid, just developing much slower. Compared to his older brother, it is taking him about twice as long to hit milestones. Once he does hit a milestone though, he usually grasps it quite quickly. My wife and I have both had genetic testing to see if there is a connection, but both of us were 'normal'. We are pretty lucky to have such a great kid, who is so bright, loving and imaginative. With so little information on C4qDS it's hard to know what to expect for his future. So far so good, for our little guy, but I would love to hear from parents who have similar experiences. To my knowledge there have not been any other documented cases of his specific deletion (4q13.3) so it would be interesting to find someone else to see if there are any similarities between them.

Community E-books
Title Description Date Link
Chromosome 4q Deletion Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare) Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. The severity of the phenotypic effect of the deletion depends on the size and the location of the deletion on chromosome 4q. This disease is prevalent in around 1 in every 100,000 people. The ebook is a good place to look for some information about Chromosome 4q Deletion. 02/27/2017
Community Podcasts
Title Description Date Link
Chromosome 4q Deletion Syndrome Podcast Series: (08/10/2015)

Featuring Dr Scott Hickey (Nationwide Childrens Hospital, Columbus, OH), Dr Eugene Strehle (North Tyneside General Hospital & Newcastle University, North Shields, UK), Ms Prisca Middlemiss (Unique, The Rare Chromo Disorder Group, Oxted, Surrey, UK) and Dr Jimmy Lin (RGI)

08/17/2018
Community External News Link
Title Date Link
Community Resources
Title Description Date Link
4q Deletions Yahoo Group

This is the central meeting point online for families dealing with issues around 4q deletions. We get new members every month, all who are affected one way or another by 4q deletion issues are welcome to join, parents, siblings, doctors, therapists, extended family.

 

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Discussion Forum

4q28.3 deletion

Created by Lynn Mccoy | Last updated 27 Jun 2018, 05:26 AM

13.1-21.1 Deletion

Created by Ozgur | Last updated 15 Jun 2018, 09:00 PM

4q 21.1 deletion

Created by Amber097 | Last updated 4 Apr 2018, 07:11 PM

4q33

Created by simmonshope45 | Last updated 29 Dec 2016, 10:04 AM

4q facebook

Created by MRG10810 | Last updated 26 Dec 2016, 07:37 PM

4q 14 to 16.1 deletion

Created by Lulu | Last updated 17 Nov 2016, 09:21 AM

4q27 deletion

Created by Nomeolvides | Last updated 16 Sep 2016, 05:44 AM

4q34 Western Australia

Created by melaniegray1986 | Last updated 12 Jun 2016, 06:49 AM

4q13.3 Deletion

Created by Nlacroix | Last updated 26 May 2016, 12:12 AM


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