Emanuel Syndrome

What is Emanuel Syndrome?

Emanuel syndrome is an abnormality as a result of chromosomal alteration that hinders the regular growth of the infant’s body. This results in the birth of an underweight child and whose immunity is below par. This is followed by slow weight gain leading to underweight and underdeveloped body parts. In majority of the patients, slowed body development is followed by a retarded mind. Hypotonia is common among all Emanuel syndrome patients. Hypotonia refers to nature of muscle weariness and fatigue.

Emanuel syndrome has significant effects on the facial features of its victims. This is best expressed through microcephaly, where the affected have a small head. This is also expressed through micrognathia, where the affected have a characteristic smaller lower jaw. The auditory system is also affected, where the ear has small openings on the lower side of the ear, otherwise known as; sinuses. The majority of the infections of the condition have an opening on the upper side of the mouth. The arched palate may be causative to difficulty in speech amongst infected young ones.

However, the condition is more expressed in males, where the affected male victims have complications in their reproductive systems. These genital abnormalities, though not hereditary, are a problem that victims have to live and put up with. Additionally, there are more fatal conditions that are associated with the ailment. Cardio complications are not very common but they if it comes hand in hand with hypoplastic kidneys, the condition can prove to be life threatening especially in the early stages of growth.

Signs and symptoms

The majority of the effects of the condition are facially expressed and can be observed physically by a physician. However, there are a few of the ailments effects that are far more expressed but can only be determined through diagnosis by a doctor. These symptoms range from:

• Mental disorder
• Reduced size of the head/ microcephaly
• Stunted growth and development
• Sinuses on the lower entrance to the ear
• Cleft palate
• Abnormalities in the kidney
• Cardio complications
• Urethral complications in male subjects

Emanuel syndrome one of the rarest ailments that affect the human race. The condition also remains unknown to many as not much has been written on the disease. Slightly over a hundred cases of the same have been reported worldwide, instigating researchers to make an insight into the causes and cure of the ailment.

Inheritance

Patients suffering from the disease inherit the der (22) from a healthy parent. The chromosomes 11 and 22 are appropriately arranged in a balanced translocation. In this case, there are no complications; no genetic information is added or lost. However, during the transfer, the translocation may become unbalanced bringing about extra genetic information and hence the der (22). The extra genetic material is responsible for setting of the symptoms of the disorder.

What causes Emanuel syndrome?

The condition is instigated by the prevalence of genetic information of the 11 and 22 chromosomes more than is needed. Persons suffering from the condition have an additional chromosome on top of the normal 46 chromosomes. This is usually a strand of the 11 chromosomes attached on to the strand of chromosome 22. The extra chromosome is known as derivative 22 (Der 22).

Due to the extra chromosome, persons suffering from the condition have three gene copies in each rather than the normal pair. As a result of this, the additional genetic information leads to the abnormal growth and development of the body. It is only after then, do the characteristic signs and symptoms start to reveal their effects. Research is still underway as scientists yearn to prove the gene characteristics of the der 22 to determine the role of the genes in bringing about the onset of the Emanuel syndrome.

Genitourinary

Complications of the kidney are common among affected patients. The condition might be expressed partially or fully where the kidney may be absent completely. The degree of Hypoplasia varies amongst different subjects, with fatality being common during the onset of the ailment in the early stages of development.

Cardio complications

Majority of the subjects with der (22) suffer from heart problems. The extent of the condition range from normal sickness to more fatal conditions. The complications are mostly prompted by hitches in the atrial and ventricles.

Gastrointestinal

Fistula is a common problem affecting many patients with der (22). Advanced anal stenosis may also come hand in hand.

Inguinal hernias, though not typical, has been well covered such that there is enough significant knowledge on the condition.

A large number of patients have reduced body weight. This is attributed to by the fact there are feeding problems among subjects. Ingestion and digestion of these foods are often a huge problem affecting these persons and hence the reduced body weight.

Musculoskeletal

Hypotonia is evident in all patients ailing from the infection. In advanced stages, hypotonia leads to bending of the spine. This continued spread of the condition leads to delayed transmission of nerve impulses along the spine. Victims are also prone to dislocations where it progressively leads to many more joint complications.

Diagnosis

Once you have been diagnosed with the condition, you are bound to spend most of your life in between physicians. There is no particular treatment procedure for the disease. This means that each condition has to be treated independently depending on the needs of the patient. Ideally, persons with cardio defects will have to seek the services of a cardiologist while those with cleft palates need surgical procedures to correct the condition.

Control of the disease also means that you need to completely understand the gene of the subjects. This is where the services of a geneticist come in. The geneticist tries to understand the genes of the patient together with those of close family members before they can deliberate on the way forward.

Essentially, the children have to undergo physical, mental and body assessments before a comprehensive program can be rolled out to calm down the effects of the infection as there is no cure for the condition.

Management

As Emanuel syndrome has no cure, it can only be controlled by laying down a procedure to treat the manifestations of the condition. After complete alienation of the defects that come handy with the condition, it is of due importance to insure against secondary complications that may be attributed to the primary condition. Last but not least, continued surveillance must be guaranteed to watch out for any new snags.

References

1. Emanuel syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/emanuel-syndrome.
2. Emanuel BS, Zackai EH & Medne L. Emanuel Syndrome. GeneReviews. February 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1263/.