Skin
Skin Issues – Emanuel Syndrome
Increased nuchal fold / excess neck skin has been known to occur in individuals diagnosed with Emanuel Syndrome. This is something that can be seen in children who have chromosome abnormalities and might be something that is identified on an ultrasound.
“This is Shelby as a newborn and a bit older. It was basically the first thing they noticed that was abnormal on my ultrasounds. They were convinced she had Turner Syndrome. She grew into her skin fairly quickly. You can’t even tell now.”
Sometimes children with Emanuel Syndrome may be born with skin tags or pits on parts of their body. We often see them near the ears or mouth. These tags can be removed surgically if they are bothersome. This little guy is Blade and he has them on each side of his face. They are expected to be removed when he has surgery to fix his cleft palate.
You can see additional members of our group that have ear tags:
“We were offered plastic surgery but the pits aren’t deep enough to cause trouble and the tags we just see as part of her. In fact, when trying to explain to a friend’s little girl years ago some of Lucy’s differences I said she had ‘extra bits’ (meaning chromosomes). A few months later it transpired she thought it was her ear tags, that all Lucys needs were due to them! Quite cute really.”
You can read more about ear tags on the Children’s Hospital of Philadelphia website.
“We had no idea that Monroe had Emanuel Syndrome when she was born. The pits by her ears were the first indication that there might be something else going on. It was what prompted the doctors to get genetic testing done.”
Sarah was also born with ear pits.
You can read more about ear (preauricular) pits on the Children’s Hospital of Philadelphia website.
Sacral Dimples
A sacral dimple is a tiny indentation seen at the base of the tailbone and is typically harmless. In rare instances, it can mean a problem with the spinal cord (tethered spinal cord). Your doctor may have ordered an ultrasound of the sacrum (tail bone) to check to make sure there isn’t a “tethered cord.” You can read more about sacral dimples on the Cleveland Clinic website.
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