Medical Issues
Congenital Anomalies and Medical Issues in Individuals with Emanuel Syndrome
According to Carter et. al., (2009), congenital anomalies are seen in nearly 90% of all children born who have Emanuel Syndrome. These can commonly include heart defects, cleft palates and renal malformations.
It is also common for children with Emanuel Syndrome S to have what are known as “dysmorphic features”. While the facial “phenotype” or “look” is variable, some common features are seen – read more about common appearances our page: Commonly Asked Questions
What types of problems should my doctor screen my child for?
Generally, your doctor should do a general physical on your child, but specifically, he or she should screen for the following or make referrals for:
- Heart defects – an echocardiogram (an ultrasound of the heart) should be done once in infancy;
- Ear problems – all children with developmental delays and/or frequent ear infections should have their hearing tested regularly by an audiologist; children with frequent ear infections should be referred to a paediatric Ear, Nose and Throat (ENT) doctor for consideration of drainage tubes;
- Palatal evaluation – for cleft palate;
- Vision – have your child’s vision assessed by an optometrist or ophthalmologist who specializes in children;
- Orthopedic issues – specialist to check for hip, spine and other possible orthopedic problems;
- Neurology – EEG if suspicious of seizures;
- Feeding and swallowing tests – To check for palate problems, intestinal malformations, gastroesophageal reflux and/or airway issues; Aspiration is seen in a large number of children as well;
- Kidneys – malformations can be seen on an abdominal ultrasound; if urinary tract infections are an issue, a VCUG (voiding cystourethrogram) should be performed to check for reflux;
- Urological evaluation – for males (to check for cryptorchidism, micropenis);
- A few of our children with Emanuel Syndrome have been reported as having hypothyroidism.
- Developmental services – early intervention or infant development specialist, speech therapist, physiotherapist and occupational therapist assessments;
- Genetic counseling – for other family members to screen for carrier status; and
- Failure to thrive – can sometimes be seen in children who have poor feeding due to hypotonia, craniofacial differences, cardiac or gastrointestinal malformations.
We have not listed every possible medical issue – but we have listed the major ones. Some children may have a unique feature not seen in any other child with Emanuel Syndrome.
Another important thing to remember is that even though your child may have a general screening and things seem stable, our children are full of surprises. Make sure that you follow up and go for regular health checkups. Some serious health issues that may not have been present at birth may show up later in life. It is important not to let your guard down as a parent. It is not our advice that you panic about everything, but be conscious that your child may develop health issues and trust your instincts. You will learn what is normal for your child and if something seems out of the ordinary, it doesn’t hurt to get it checked out.
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
