Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome
A young girl sits and smiles and has a tracheotomy. Breathing Issues Emanuel Sydnrome

Respiratory

Respiratory  Breathing issues – Emanuel Syndrome

Several children with Emanuel syndrome have been reported to have breathing issues. This is due to more than one factor. Breathing issues have sometimes kept our children in the hospital at birth until their issues resolve or are treated so that they can be managed at home. Some of these breathing issues result in lifetime challenges and can impact them more significantly when they become ill, especially with respiratory issues, or if they need surgery and require intubation. Some of these issues are:

  • Pierre Robin Sequence is a common finding in children with ES. The combination of cleft palate, small jaw and tongue displaced towards the back of the throat (glossoptosis)has been a problem for many of our members. Please see our craniofacial page.

Other reasons for breathing issues that are not as common in children with ES include: 

  • Aspiration: When food or liquid (even saliva) is breathed into the lungs, instead of being swallowed, which can cause serious problems such as pneumonia. Read more about aspiration from Boston Chidren’s Hospital.

“Evyn was referred to an ENT at her 2-week checkup and diagnosed with Laryngomalacia at 1 month old. The sound of her breathing was terrifying! We were followed closely by the ENT and made the decision to hold off on a trach because it slowly improved. At 2 years old, her breathing is almost completely “normal.” What a scary time though! My best advice is to trust your momma gut!”

Some individuals with Emanuel Syndrome require a tracheostomy to help them breathe. But that doesn’t stop them from smiling! 

Many of our children have issues with drooling, which is due to low muscle tone. This can lead to aspiration, which in turn can cause pneumonia. You can learn more about excessive drolling, also known as sialorrhea, from Nationwide Children’s Hospital.

For more information on breathing issues, especially with respect to surgery, see our page Care & Treatment – “Considerations for surgery” 

Reference

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957

 

You may also be interested in: Emanuel Syndrome Guide for Families & Caregivers