Many a time we see people with facial features that seem to be deformed. Have we ever thought what must be the reason for these deformations? Is it a genetic disorder? Well the answer is simple these individuals may be suffering from a genetic disorder known as DiGeorge Syndrome. Thymus gland that is positioned at the back of the breastbone is accountable for the maturity of the T-cells that help in fighting infections. The 4 parathyroid glands positioned adjoining to the thyroid gland in the neck also normalize calcium in the blood via production of the parathyroid hormone.
Defining DiGeorge syndrome
DiGeorge syndrome is a hereditary disorder with unstable conditions present in every person suffering from this syndrome. However, conditions such as impacts on facial appearance, heart defects and underdeveloped or lack of parathyroid and thymus glands are generally observed in this syndrome.
Defining (VCFS) velo cardio facial syndrome
(VCFS) Velo cardio facial disorder is a hereditary condition which is associated with DiGeorge syndrome. VCFS entails a chromosome defect similar to DiGeorge syndrome.
Causes of DiGeorge disorder
Nearly 90% of the individuals with this disorder miss a small fraction of their chromosome 22 at the q11 region. This area covers around 30 individual genes which upshots in the developmental defects in particular structures all over the body. The reason for the deletion of this area of chromosome 22 is unknown; however this is one of the most normal chromosome deficiencies seen in newborns. Deletion 22q11.2 is anticipated to take place in 1 out of 3,000 to 4,000 kids at time of birth. Many of the 22q11.2 deletion instances are fresh incidences or erratic (happens by chance). Nevertheless, this deletion is hereditary in around 10% of the families. The genetic material is autosomal dominant; hence, any individual with this deletion is 50% more likely to pass it to his or her kid. Therefore, once a deletion is detected, both the parents are offered the prospect to get their blood studied in order to find the location of this deletion.
Round 10% of the people suffering from (VCFS) velo cardio facial syndrome don’t have a deletion in the chromosome 22q11.2 area. Other chromosome deficiencies have been linked with these traits, for instance, fetal alcohol condition, maternal diabetes, and pre-natal exposure to a medicine called Accutane which is used for cystic acne.
(VCFS) or Velo cardio facial syndrome is a disorder related to Di George Syndrome. Kids with DiGeorge syndrome or VCFS, mostly have heart disorders. ‘”Conotruncal” means the part of heart which includes the pulmonary and aorta artery, that is often not normal in the kind of heart disorders seen in kids suffering from Di George Syndrome.
Infants born with VCFS or DiGeorge syndrome often have heart disorders due to the deletion of cells in them. This can vary from mild to severe defect and could be life threatening. TBXI or T-box transcription feature plays an important genetic part in numerous characteristic traits of DiGeorge abnormality, which also include the cardiac outflow path of aortic arch and dysmorphogenesis deformities. According to some research on the acclimatizer protein Crkol23 demonstrates that other genes in the deleted areas may also affect similar developmental path.
DiGeorge syndrome Symptoms
It has been noticed that not all kids suffering from this disorder will have all the following traits of this syndrome as these vary and depend on the severity of the traits. Enlisted below are the common features of this syndrome:
- Feeding difficulties
- Palatal abnormalities (for instance cleft lip or/and palate)
- Conotruncal heart defects (for instance, sporadic aortic arch, tetralogy of Fallot, vascular rings, ventricular septal disorders)
- Genitourinary anomalies (deformed or absent kidney)
- Abnormal ear exams or hearing loss
- Microcephaly (small head)
- Hypocalcaemia (calcium levels is low in the blood)
- Mental retardation (generally average to mild)
- IQs are usually between 70 to 90 range
- Rigorous immunologic dysfunction (an immune system that does not work correctly because of abnormal T-cells, causing regular infections)
- Psychiatric defects in grown-ups (for instance, bipolar, schizophrenia disorder)
The facial features of kids with DiGeorge condition may possibly include:
- Hooded eyelids
- Small ears with squared upper ear
- Cleft lip or/and palate
- Asymmetric crying faces
- Small chin, mouth, and side regions near the tip of the nose
The indications of DiGeorge syndrome may bear a resemblance to problems or medical conditions. It is best to consult your child specialists at all times for a diagnosis.
Diagnosis of DiGeorge syndrome
Beside prenatal history, total family and medical history, plus a physical examination, the diagnostic course of actions for DiGeorge could also include:
- tests and blood tests to inspect immune system defects
- X-ray
- Echocardiography
- (FISH) or Fluorescent in situ hybridization studies
When traits of conotruncal heart disorders, other facial features, clefting, missing thymus are identified along with hypocalcaemia, a blood test is generally done to find the deletion in the chromosome 22q11.2 area. FISH is specially designed to find small groups of genes which are deleted. In case FISH test locates no deletion in the 22q11.2 area and there is still strong indication of VCFS traits, then normally a full chromosome study is done in order to find the other chromosome deficiencies that are connected with this syndrome.
In case a 22q11.2 deletion is noticed in a child, then both the parents are suggested to undergo the FISH test in order to check if the cause of this deletion hereditary. In around 10% of families, the deletion is found to be hereditary from either of the parents. Every person with this 22q11.2 deletion poses a 50% risk; of passing it to his or her kid with every pregnancy.
Treatment for DiGeorge Condition
Your child specialist determines the treatment for DiGeorge condition based on these:
- the extent of the ailment
- Age of the child, medical history and overall health
- The tolerance level of the kid with regard to specific procedures, medications or therapies
- type of ailment
- your preference or opinion
- anticipations for the course of the ailment
Treatment could also depend on certain features in a particular kid and may comprise of the following:
- The cleft lip or/and palate is examined by a speech pathologist and a plastic surgeon.
- Feeding difficulties are examined by gastrointestinal and speech specialists.
- A cardiologist will examine heart disorders.
- All kids with this deletion ought to undergo Immunological evaluations. In order to monitor T-cell deficiency and recurring illnesses, live viral vaccines must be avoided and each and every blood products used for transfusions (in case required) must be removed only after given an approval by an immunology doctor.
Bone marrow transplantation is needed in severe cases wherein the immune system function is not present. Many infants with this deletion would gain from early intrusion to assist with mental stimulation, muscle strength, and speech defects. On the whole, the treatment is dependent on the particular symptoms noticed in any given kid.
Long-term outlook for children with DiGeorge syndrome:
A very small percentage of kids suffering from severe immune system problems and heart defects would not survive the 1st year of their life. Nevertheless, with the appropriate treatment for immune system disorders, heart defects and other health disorders, there are many kids with a 22q11.2 deletion who live and grow up as adults. These kids will usually require extra assistance right from school and would require long term care with regard to their individual health requirements.
