What are the other Names for this Condition? (Also known as/Synonyms)

• Derivative 22 Syndrome
• Supernumerary der(22) Syndrome
• Supernumerary der(22),t(11;22) Syndrome

What is Emanuel Syndrome? (Definition/Background Information)

• Emanuel Syndrome is a chromosomal disorder associated with poor muscle development, stunted growth, learning disabilities, heart defects, unusual facial features, and other congenital abnormalities
• The syndrome is caused by an addition of genetic material to chromosomes 11 and 12. Emanuel Syndrome can be inherited from an unaffected parent with a special chromosomal arrangement called “balanced translocation” between chromosomes 11 and 12
• Emanuel Syndrome can be diagnosed with karyotype and fluorescence in situ hybridization (FISH) imaging tests. Even though there is no cure for Emanuel Syndrome, suitable treatment interventions may be considered symptomatically
• Treatment interventions may vary depending on the signs and symptoms present in the affected individual. Similarly, the prognosis of individuals with Emanuel Syndrome can differ depending on the symptom severity and one’s response to therapy

Who gets Emanuel Syndrome? (Age and Sex Distribution)

• Emanuel Syndrome is an infrequent condition, and only a hundred or so cases have been reported
• The disorder is manifested at childbirth (congenital) i.e., babies are born with the condition
• Both males and females are affected
• Worldwide, the condition may be seen across different racial and ethnic groups 

What are the Risk Factors for Emanuel Syndrome? (Predisposing Factors)

• Emanuel Syndrome is a congenital disorder, and the only known risk factor is having a parent with a balanced translocation between chromosomes 11 and 12
• No other risk factors have been currently identified

It is important to note that having a risk factor does not mean one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Emanuel Syndrome? (Etiology)

• Emanuel Syndrome is caused by extra genetic material on chromosomes 11 and 12, which add up to the amount of a single chromosome. Thus, individuals with Emanuel Syndrome have 47 chromosomes (normal human beings have 46 chromosomes)
• Individuals with Emanuel Syndrome have an “unbalanced translocation” of chromosomal rearrangement. The extra genetic material results in extra copies of some genes, leading to birth defects and disruption of normal growth and development

Emanuel Syndrome can be inherited from an unaffected parent with a chromosomal arrangement called “balanced translocation” between chromosomes 11 and 12. This means that the parent can have a rearrangement of chromosomal material between chromosomes 11 and 12 without any net addition or loss of genetic material.

What are the Signs and Symptoms of Emanuel Syndrome?

The signs and symptoms of Emanuel Syndrome are varied and may differ from one individual to another. These may include:

• Poor muscle growth
• Stunted growth
• Intellectual disability
• Small head (microcephaly)
• Opening in the roof of the mouth (cleft palate)
• Ear abnormalities
• Heart defects
• Distinct facial features

How is Emanuel Syndrome Diagnosed?

Emanuel Syndrome may be diagnosed through the following tests and exams:

• Complete physical examination and evaluation of family medical history
• Assessment of the presenting signs and symptoms
• Karyotyping: An imaging test to visualize the chromosomes may be undertaken
• Fluorescence in situ hybridization (FISH): A karyotype with fluorescent probes to highlight the specific areas of abnormal DNA 
• Chromosomal microarray analysis (CMA): A test that is highly sensitive to microdeletions and microduplications of DNA

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Emanuel Syndrome?

The primary complications of Emanuel Syndrome include significant intellectual disability and fatal congenital defects. Other complications include:

• Severe emotional stress for the parents and caretakers
• Heart defects, such as aortic valve stenosis, are commonly observed in individuals with Emanuel Syndrome
• Absent or small (micro) kidneys can also be noted in this condition
• Unusual facial features are frequently noted
• Overall quality of life may be affected

How is Emanuel Syndrome Treated?

Emanuel Syndrome is a genetic disorder, and hence, there is no cure for the condition. Healthcare specialists from the following fields are often seen to treat the symptoms of the syndrome:

• Cardiology
• Gastroenterology
• Orthopedics
• Neurology

Treatment for Emanuel Syndrome is generally supportive and focuses on managing specific symptoms and addressing associated health issues. As the condition can vary widely in its manifestations, treatment plans are individualized based on the unique needs of each affected individual. Some of the common intervention methods include:

• Early intervention services: Early developmental and educational interventions can help address developmental delays and promote learning and communication skills
• Speech and occupational therapy: Therapies targeting speech and occupational skills can be beneficial in addressing language delays, fine motor skills, and sensory integration challenges
• Physical therapy: Physical therapy may be recommended to address gross motor skills and improve mobility
• Medical management: Specific issues associated with Emanuel Syndrome, such as heart defects or gastrointestinal problems, may require targeted medical interventions

Regular health monitoring: Individuals with Emanuel Syndrome may benefit from regular health check-ups to monitor their overall well-being and address emerging health concerns.

How can Emanuel Syndrome be Prevented?

There are currently no known prevention methods for Emanuel Syndrome as the condition occurs from genetic factors. In case of a positive family history, the following may be considered:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Emanuel Syndrome? (Outcomes/Resolutions)

The prognosis for Emanuel Syndrome varies from one individual to another, depending on the severity of the signs and symptoms.

• Individuals with mild signs and symptoms have a better prognosis than those with severe ones
• Individuals with significant congenital defects, such as heart valve stenosis and renal hypoplasia, are likely to have a poor prognosis

Additional and Relevant Useful Information for Emanuel Syndrome:

The following link is a helpful resource for more information on a condition similar to Emanuel Syndrome:

https://www.dovemed.com/diseases-conditions/trisomy-22-syndrome/