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Cri du Chat Syndrome

What is Cri du Chat Syndrome ?

Cri du Chat Syndrome is a rare genetic disorder due to a missing portion of the short arm on chromosome 5.

 

Cri du Chat Syndrome is a rare genetic disorder due to a missing portion of the short arm on chromosome 5.
Acknowledgement of Cri du Chat Syndrome has not been added yet.
Prevalence Information of Cri du Chat Syndrome has not been added yet.
Synonyms for Cri du Chat Syndrome has not been added yet.
Cri du Chat Syndrome is caused by a missing portion of the short arm on chromosome 5.
It is important that parents ask for help. Although medical staff may have little or no experience with infants with CDCS they will have extensive experience in dealing with hypotonic and low birth weight babies with feeding problems. with the help of early therapeutic interventions, most children will eventually reach major milestones including learning to sit up, crawl, walk, and eat independently. What is important to remember is that every CDCS child is unique and not all children will perform at the same level at exactly the same time. Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational intervention, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.
Diagnosis of Cri du Chat Syndrome has not been added yet.
Diagnostic tests of Cri du Chat Syndrome has not been added yet
Early intervention as soon as possible. These include occupational therapy, physical therapy, speech therapy,and early education. The following are known to help: Horse therapy has been known to be of help along with Aqua therapy, PROMPT therapy, feeding therapy, ABA therapy, and many others. Each child is different and the childs needs need to be met along with a bit of challenge.
Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational intervention, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.
Tips or Suggestions of Cri du Chat Syndrome has not been added yet.
References of Cri du Chat Syndrome has not been added yet.
Hi! Created by kc0509
Last updated 20 Feb 2010, 02:19 AM

Posted by kc0509
20 Feb 2010, 02:19 AM

Hi, I picked this community because it is close to my son's diagnosis. He has a 5p deletion and the geneticist was pretty sure he had Cri du Chat but it turns out he has partial trisomy 11 as well as the 5p deletion (unbalanced translocation). So, hope you don't mind me hopping in here. My little guy will be 5 in April. He is pretty significantly delayed, more so I think than most kids with cri du chat. He started walking last summer, but he still prefers to crawl in the house. He doesn't feed himself and needs food pureed. He used to say about 10 words but lost his speech around age 3. It turns out that he has progressive hearing loss and wears hearing aids now. He also has reactive airway disease, seizures, a couple heart surgeries, hernias, and so forth. More importantly, he is just about the sweetest, cutest little man you could ever meet and he gives big hugs to everyone in reach. That's a little bit of our story. I'd love to hear yours, especially anything you can share about speech and feeding. Thanks! -Dawn

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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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I have a daughter with cri du chat syndrome and a son with 5p-15 duplication
My daughter was born with Cri-du-chat syndrome and tetralogy of Fallot. She recently passed away, and I want to pay it forward for all the love we received through her and from her. I want to be an...
My name is January I'm a mom of 3.. two boys, one girl. Our daughter Jayci is 3 yrs old and has Cri du Chat syndrome.
My almost 5 year old son has a rare chromosome disorder, partial trisomy 11q and partial deletion 5p. He has significant medical problems and developmental delay, but he is very sweet, funny, and...
I"m a mother to my daughter whom is 8 years old and with a diagnosis of Cri Du Chat Syndrome PLUS Autism. I have a son he is "nt" (Nero typical) he is 6.5.

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Hi!

Created by kc0509 | Last updated 20 Feb 2010, 02:19 AM


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