Ears and Hearing

Ears and Hearing Emanuel Syndrome. Some of our children can be born with ear differences – which might present as tiny pits or tags on the ears, and some children have been born with malformed or even missing ears (known as microtia). Some of our children have ears that are lower set, smaller than usual, or even have differences in the inner ear which can impact their hearing.

Hearing

Hearing loss is very common in children with Emanuel Syndrome, affecting about 75% to some degree. Loss in hearing can be anywhere from mild to profound, including complete deafness. 

In some cases, the hearing loss is due to fluid behind the eardrum (conductive hearing loss), but it can also be sensorineural, caused by damage to the inner ear or nerves involved in hearing. For those with conductive hearing loss, ear tubes to relieve the pressure behind the eardrum has improved hearing in some cases. 

Children with sensorineural hearing loss may benefit from hearing aids, and there are children with Emanuel Syndrome who use cochlear implants.

“Phoenix failed his first hearing test at 3 days old due to glue ear. He was fitted with a bone conductor until he could get grommets (ear tubes) at 6 months of age. He is now nearly 4 and has had 4 sets of grommets. He has extremely narrow ear canals.”

“When Steven was just over two months old, we noticed that he was not responding to sound while we attended a local parade. We tested this ourselves by banging pots while he was awake or asleep, and he didn’t even flinch. Later we had his hearing tested and it was discovered that he had very little hearing – if any at all.” – Read more about Steven at: 

https://c22central.blogspot.com/2021/11/exceptional-beyond-expectations-deaf.html

Some of our children are also born with tags and pits around their ears. See this page for more details – Skin

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