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Emanuel Syndrome
Definition
IEmanuel Syndrome (ES) is a disorder that disrupts normal development and can affect many different parts of the body (Emanuel syndrome - Genetics Home Reference - NIH, 2018). ES is caused by extra genetic material from the 11th and 22nd chromosomes which is then seen as an additional chromosome (Emanuel syndrome, 2016). There are many varied signs and symptoms of ES and they often are both physical and intellectual (Emanuel Syndrome, 2014). They include decreased muscle tone, developmental delay, intellectual disability, extremely small head, distinctive facial features, small jaw, ear anomalies, arched palate, cleft palate, heart defects, kidney malformations, and genital abnormalities (Emanuel syndrome, 2016). ES is an inherited syndrome and is typically passed from the mother to her children (Choudhary, et al., 2013).
Instructional Strategies
ES can come in many forms, some people with ES have very few signs or symptoms while others experience a full range of them. This means that providing instruction for a student with ES can vary on a student to student basis. Therefore, only general information that can help when it comes to the development of a student with ES will be provided. One thing that many children with ES need help with is fine motor skills and self-help skills. They may need assistance getting dressed, going to the bathroom, or eating. Around half of children with ES are incontinent. Some children with ES may need accommodations such as an assistant and the opportunity to go to the restroom at regular intervals (Support for Disorders of Chromosome 22, 2018).
Children with ES unfortunately do not typically develop speech although there are some exceptions where they can say a few words or sentences. This means that in a classroom setting, providing these students with another way to communicate is important. This can be done through sign language or electronic systems. Physical mobility is also a challenge for children with ES and their ability to walk is typically delayed and when they do learn they may need the assistance of a walker. Accommodations such as enough space for a walker or wheel chair should be provided to give these students full and equal access (Support for Disorders of Chromosome 22, 2018).
Useful Websites
http://www.c22c.org/index.html
https://ghr.nlm.nih.gov/condition/emanuel-syndrome#
https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome
Research
The useful websites and the websites in the sources are updated and informative of the most recent developments and research when it comes to Emanuel Syndrome.
Sources
Choudhary, M. G., Babaji, P., Sharma, N., Dhamankar, D., Naregal, G., & Reddy, V. S. (2013, April 18). Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review. Retrieved October 31, 2018, from https://www.hindawi.com/journals/cripe/2013/237935/
Emanuel Syndrome. (2014). Retrieved October 31, 2018, from https://www.rarechromo.org/media/information/Chromosome 11/Emanuel syndrome FTNW.pdf
Emanuel syndrome. (2016, June 28). Retrieved October 31, 2018, from https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome
Emanuel syndrome - Genetics Home Reference - NIH. (2018, October 30). Retrieved October 31, 2018, from https://ghr.nlm.nih.gov/condition/emanuel-syndrome#
Support for Disorders of Chromosome 22 . (2018, August 1). Retrieved October 31, 2018, from http://www.c22c.org/index.html
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