What is Emanuel syndrome?

Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have one or more of the following:

  • weak muscle tone (hypotonia)
  • fail to gain weight and grow at the expected rate (failure to thrive)
  • their development is significantly delayed, and most affected individuals have severe to profound intellectual disability
  • an unusually small head (microcephaly)
  • distinctive facial features
  • small lower jaw (micrognathia)
  • ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses)
  • about half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate
  • Males with Emanuel syndrome often have genital abnormalities
  • heart defects
  • absent or unusually small (hypoplastic) kidneys

How common is Emanuel syndrome?

Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported.

What are the genetic changes related to Emanuel syndrome?

Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome.

As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.

Can Emanuel syndrome be inherited?

Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder.

Other info on Emanuel Syndrome

MENTAL DELAYS

Unfortunately, one of the most difficult aspects of having a child with Emanuel Syndrome is developmental delay. Early Intervention is the best chance your child has at reaching his or her full potential. There are a lot of things that can be done to help stimulate your child’s mental development. Most places will have a local Early Intervention Program, which your child can be referred to. They will give you ideas on how to stimulate your child’s senses, to help with sensory defensiveness, speech development, and physical development.

SPEECH

Very few have any speech. Some are able to learn a few words, and even a couple have been able to speak in sentences, but this is extremely rare, and not the norm. The majority of the children are non-verbal, and many have used alternative methods of communication such as sign language and Picture Exchange Communication System.

PHYSICAL DELAYS & ABNORMALITIES

Hypotonia is found in approximately 30% of children with t(11;22). This is best described as generalized “floppiness”; lack of muscle tone in a child. It is a characteristic of central nervous system dysfunction, and the child is unable to create enough force in its joints to be able to support movements. Physical therapy is the best help for this, and it can be improved, though the individual will likely always be low toned.

Congenital hip dislocation is also a common finding in t(11;22) children, (about 25%), and sometimes requires surgery. Early treatments that can be helpful are double diapering, to keep the legs in a “frog leg” position, or casting may help. Complications of hip dysplasia/dislocation may lead to arthritis later in life.

Heart Defects – Approximately 50% of children with unbalanced 11/22 translocation will be born with some type of congenital heart defect. There can be many different heart defects associated with children who have t(11;22) The most common that have been reported, are ASD’s VSD’s, & PDA’s, but there are also others noted.

Walking in children with t(11;22) is delayed. The earliest report of a child with t(11;22) walking independently is age 2 or 3, though from what I have seen, the majority of children that do learn to walk, will walk at around age 5 or older. Some children will not walk until even later, and some, not at all. As in any syndrome, the cases ALL vary. The best advice is consistent encouragement and therapy.

Source: Emanuelsyndrome.org and Genetics Home Reference