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Information on the 11/22 translocation and
Emanuel Syndrome
Sponsored by Chromosome 22 Central

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If my child does not have a lot of medical issues, does that mean he will do better developmentally?

This question has been asked by more than one parent. Medical issues do not predict how well your child will develop. Some children have very serious, life-threatening medical issues but they sometimes do better cognitively than others who have had relatively few medical problems. This is not something we are able to predict.

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 pediatric Ear, Nose and Throat (ENT) doctor for consideration of drainage tubes

Vision – have your child’s vision assessed by an optometrist or ophthalmologist who specializes in children

Orthopedic specialist to check for hip, spine and other possible orthopedic problems;

EEG if suspicious of seizures;

Feeding and swallowing, and to check for palate problems, intestinal malformations, gastroesophageal reflux and/or airway issues;

Kidneys – malformations can be seen on an abdominal ultrasound; if urinary tract infections are an issue, a VCUG should be performed to check for reflux

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.

Special considerations for airway issues for sedation/intubation

Many of our children have had very difficult experiences with sedation and intubation for certain medical procedures. It is important to discuss with your doctors that great care should be taken in this regard. Care should be provided by an experienced pediatric anesthesiologist. Many of our children have been diagnosed with narrow airways, palate abnormalities and laryngomalacia. Some children have had difficulty following extubation with swelling and they have had serious breathing issues. This is a very important concern for our children.

We have not listed every possible medical issue on this site – but we have listed the major ones seen in our children. Some children may have a unique feature not seen in any other of our children.

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 check ups. 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.

Other Health Issues

One of the most common health issues in our children is overwhelmingly recurrent middle ear infections (otitis media). Recurrent chest infection/pneumonia and sinusitis are also seen frequently. Aspiration is seen in a large number of children as well. Other health issues can be urinary tract infections, and thrush. There are a few (about 20%) who have reported low immunoglobins, a condition which can leave them more susceptible to infection. Some of our children have received special intravenous treatments help improve their immunity. A few of our children with ES have been reported as having hypothyroidism.

Medical Issues

What are the some of the more common issues seen in people with Emanuel Syndrome?

Cleft palate – This is an incomplete closure of the roof of the mouth during development of the fetus. Cleft palate is sometimes seen in conjunction with Pierre Robin Sequence, a combination of cleft palate, small jaw (micrognathia) and a downward, displacement of the tongue (which is further back in the airway than normal, and referred to as glossoptosis.) Cleft palate is seen in approximately 50% of children with Emanuel Syndrome. It can be full, affecting both the hard and soft palate, or just the soft palate. Cleft palates can lead to problems with feeding and if combined in Pierre Robin Sequence, difficulties with breathing as well. Cleft palates are repairable with surgery, which usually takes place around 1 year of age. Some of our children have less serious forms of clefting, seen as submucous clefts, or bifid uvulas (where the uvula – located at the back of the throat – appears to be split in two.) Some children may have very high arched palates. Cleft lip is not reported in any cases of Emanuel Syndrome.

Heart defects

The 2009 study our group participated in reported that about 57% of children with Emanuel Syndrome will have some form of heart defect, and about half of those will require surgical repair. Many of the heart issues did not affect life expectancy.  Some of the more common heart defects found in our children are:

  • Atrial Septal Defect or ASD (most common: seen in 45% of children with a heart defect)
  • Ventricular Septal Defect or VSD (13% of those with a heart defect)
  • Patent Ductus Ateriosis or PDA (11% of those with a heart defect)
  • Pulmonic Stenosis (6% of those with a heart defect)
  • Total Anomalous Pulmonary Venous Return or TAPVR (3% of those with a heart defect)
  • Tetrology of Fallot
  • Coarctation of the Aorta

Other less common heart defects may be seen as well.

Several of our group member’s children have undergone heart surgery to correct their defects, either through a procedure called heart catheterization, or open heart surgery. Most have done well after their surgery.

Ear differences / Hearing

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).

Hearing loss is very common in children with ES, affecting about 75% to some degree. Hearing loss can be anywhere from mild to profound, including complete deafness. In some cases, the hearing loss is due to fluid behind the ear drum (conductive hearing loss), but it can also be sensorineural, caused from damage to the inner ear or nerves involved in hearing. For those with conductive hearing loss, ear tubes to relieve the pressure behind the ear drum has improved hearing in some cases. Children with sensorineural hearing loss may benefit from hearing aids, and there is one known instance where a cochlear implant has been used.

Excess skin/skin tags

Some of our children have been found to have excess neck (nuchal) skin. Sometimes the children may be born with skin tags on parts of their body, usually the face. These tags can be removed surgically. 

Sacral dimple

A sacral dimple is a tiny indentation seen at the base of the tail bone, and is typically harmless. In rare instances, it can mean a problem with the 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.”

Genital/Anal malformations

Males with Emanuel Syndrome may have undescended testicles (cryptorchidism) or an abnormally small penis (micropenis). Undescended testicles may come down on their own within a few weeks of birth. If not, they must be brought down surgically into the scrotum.

A smaller percentage of people with ES (about 15%) may be born with an imperforate anus (also called anal atresia), where the opening to the anus is missing or blocked.  Urgent surgery is required to repair this when the child is born.

Intestinal malformations

Some of our children have been born with a severe defect called a diaphragmatic hernia.  This is a defect or “hole” in the muscular wall that separates the lungs and heart from the abdomen, which allows the contents of the abdomen to enter the chest cavity. This can cause serious problems with breathing and stress on the heart. It requires surgery to repair. Other types of hernias such as belly button (umbilical) or groin (inguinal) can also exist, but these are typically not life-threatening.

A condition called intestinal malrotation has also been seen in some of our children. This is a twisting of the intestines or bowel and can cause obstructions, which may require surgical treatment.

Neurological Abnormalities

Hypotonia: The most common neurological problem, seen in over 60% of children with ES, is a condition called hypotonia, which means low muscle tone. This affects the development of motor skills and can cause children to have hyperflexible joints, problems with drooling, feeding and poor posture. If your child has hypotonia, early physiotherapy is essential to help your child reach their full potential. Children with hypotonia will be later in reaching their milestones such as lifting their head, rolling, sitting up and walking.

Seizures are seen in almost half of people with ES. Some of them are grand mal seizures, and some are partial seizures. There are many different types of seizures seen in our children. Some of our children have seizures that are serious and difficult to control. Many of our children require medication to control their seizures.

A seizure is best described as a sudden abnormal electrical discharge in the brain.

Seizures can look very different depending on where in the brain the electrical discharge is occurring. Doctors classify seizures into types based on what they look like. Here are some common examples:

Generalized tonic-clonic seizure – the whole body convulses, and the child loses consciousness. He may wet himself or bite his tongue. This type of seizure used to be called “grand mal” seizures, because they look scary when they are happening! They are also very tiring – afterwards the child will want to sleep.

Absence seizure – these can be very subtle, as consciousness is only lost for a second or two. Usually the only noticeable sign that a seizure is happening is the person pauses what they are doing, and may flutter their eyelids. These used to be called “petit mal” seizures.

Complex partial seizure – this type is variable. Usually the child appears to be awake, but they are not responsive when you talk to them. One or more parts of the body may move in a repetitive way (for example, lip-smacking or hand wringing). They usually last between 30 seconds to 2 minutes, and when the seizure is over, the child feels tired and does not remember it happening.

Infantile spasms – like the name suggests, this type of seizure occurs only in infants, and it does literally look like a spasm. The whole body jerks either forward (like a sit-up) or backward. . The child appears to be awake and may not seem disturbed by the seizure. They can happen alone or in clusters (several in a row).

Febrile seizures – These are typically generalized tonic-clonic seizures that occur when a child (usually between 6 months and 3 years of age) is mounting a fever, or when the fever is starting to break.

Epilepsy is simply the term used to describe the tendency to have seizures. A child who had a single febrile seizure does not have epilepsy, unless he or she continues to have seizures once the fever has gone away. Epilepsy usually begins in childhood or adolescence. Some children who have epilepsy grow out of it by the time they reach adulthood.

If your child has a seizure for the first time, they should be checked out in the hospital emergency room right away. The doctors will do a CAT scan to make sure there is no bleeding in the brain causing the seizure. A neurologist will usually see the child as well, either in the emergency room or as an outpatient. An electroencephalogram (EEG) will be done to see if there is a specific location in the brain that is prone to seizure activity. Depending on the type of seizure, the age of the child, and the results of the EEG and CAT scan (or MRI scan), the doctor may decide to put your child on medication. Anticonvulsant medications (for example: valproic acid, phenobarb, lamotrigine, and carbamazepine) can help prevent further seizures from happening, but they all have side effects. It can take while to get the right balance of medication type and dose while avoiding side effects.

Epilepsy.com is a great parent-friendly website for further information on seizures.

Microcephaly (smaller than usual head) is seen in children with ES.

Other less commonly seen brain differences are:

Ventriculomegaly (enlargement of the ventricles of the brain),  

-brain atrophy (loss of brain cells)

-absent or hypoplastic corpus callosum (the corpus callosum is the band of white matter that connects the two hemispheres of the brain)

-white matter anomalies

-Dandy-Walker Malformation (a brain malformation which involves a partial or complete absence of the area between the cerebellar hemispheres and a cyst which forms near the base of the skull)

-Chiari Malformation (structural defects of the cerebellum)

-hydrocephalus (an abnormal accumulation of cerebrospinal fluid on the brain)


While most of our children do not have problems with vision, nearsightedness (myopia) can be seen in children with ES. So can strabismus, which is a problem where one or both of the child’s eyes will drift inward or outward.  Other less common eye conditions have been seen, including glaucoma, Duane syndrome and nystagmus.

Kidney Differences

Kidney differences are quite common, seen in over 35% of our children. Some children have been born with only one kidney. Others have reported that their kidneys were abnormally small or did not function well. Some have vesicourethral reflux, which is when urine from the bladder travels in the wrong direction up towards the kidneys via the ureters. It must be treated and monitored to prevent permanent damage to the kidneys.

Orthopedic issues

Hips: Half of our children have problems with their hips. This can be as mild as hip dysplasia, or as significant as hip dislocation. Some of our children have required surgery to repair hip problems if they are severe enough.

About half of our children have ankle instability, which is often associated with hypotonia. Often a physiotherapist or doctor will prescribe ankle-foot orthoses (ankle braces) to help with stability once the child starts to walk.

Kyphosis and scoliosis are also fairly common (about 30% of children). Some have had the conditions seriously enough to require bracing and some, surgical intervention.

Joint contractures and torticollis have also been reported.

Some of our children have been noted to have an extra pair of ribs, or club feet.

Dental Issues

Dental anomalies are commonly seen in our children. Baby teeth are typically late to appear. Teeth can come in crooked and crowded. Sometimes this is because of a smaller than usual jaw. Some children have had absent adult teeth – with no teeth to come in behind the baby teeth that fell out. Some of our children have also had enamel defects, which make them prone to getting cavities. It is not uncommon for our children to require dental surgery to have extra teeth removed, or baby teeth removed that did not become loose and fall out on their own.

Feeding issues

Feeding problems with our children are common. Some children have problems with coordination of the muscles involved in swallowing, which can cause choking. These children may be unsafe to eat food orally, and therefore may be on a soft or pureed diet, or may need to have a gastrostomy tube (a tube implanted into the stomach). The majority (75%) of our children have issues with drooling, which is likely secondary to hypotonia in the facial muscles. Many also have ongoing problems with constipation and gastroesophageal reflux.