DiGeorge Syndrome

DiGeorge Syndrome is more accurately known as 22q11.2 deletion syndrome. It is a chromosomal disorder which affects if a small part of the 22nd chromosome is missing. Various body systems poorly develop requiring medical attention. It ranges from behavioral problems, cleft palate, heart defect, low levels of calcium, weak immune system, delayed development, etc.

Image Source: www.dermnetnz.org

22q11.2 syndrome covers some terms that were thought to be different earlier, like velocardiofacial syndrome, DiGeorge syndrome and other disorders which occur from the same genetic issue, but features can vary. DiGeorge syndrome affects one in every 4,000 people, but due to different features, it is often left underdiagnosed or misdiagnosed.

DiGeorge Syndrome Causes

DiGeorge syndrome occurs due to the deletion of the 22q11.2 segment in one of the two copies of 22 chromosomes. It approximately affects 30 to 40 genes, which are yet not clearly understood.

This syndrome develops during fertilization on the paternal or maternal side. It might also take place during fetal development. The case of inheritance is minimal, and families do not have any history of this syndrome. But only 10% of the cases are passed from a parent to the child.

DiGeorge Syndrome Symptoms

• Delayed Growth
• Respiratory problems
• Throat, Mouth, arm and hand spasms
• Slow Growth
• Unhealthy muscle tone
• Increased risk of behavioral issues like ADHD
• Psychiatric disorders in later life like schizophrenia
• Autoimmune diseases like hemolytic anemia, arthritis, thyroid and idiopathic thrombocytopenic purpura
• Abnormalities of thymus gland like underactive or small thymus
• Abnormalities of the parathyroid gland, commonly hypoparathyroidism resulting in abnormal phosphorus and calcium metabolism, sometimes seizures
• Cyanosis (blue color skin) due to inadequate blood circulation caused by heart problems
• Abnormal Kidney functions

A child suffering from this syndrome might notice the following symptoms:

• Vision and hearing problems
• Feeding and mouth problems
• Developmental delays like walking, talking and learning
• Random Infections
• Muscle, bone and spine problems
• Cleft palate and other palate disorders
• Uncommon Facial features like low set ears, wide eyes, and underdeveloped chin Image Source: en.wikipedia.org

Heart problems mostly affect Aorta resulting in:

• Missing Heart vessel, truncus arteriosus
• A hole in lower heart chambers, ventricular septal defect
• Combination of four abnormal heart problems, Fallot or tetralogy

Due to the unevenness of this syndrome, the severity and the type of signs are typically resolute by the organ affected. The symptoms are evident during early infancy, during birth or early childhood.

DiGeorge Syndrome Diagnosis

DiGeorge syndrome is commonly diagnosed through a blood test named Fluorescent In Situ Hybridization (FISH) analysis. A physician will order this test if the child suffers from:

• Medical problems suggesting 22q11.2 deletion syndrome
• Heart defects, commonly associated with this syndrome

DiGeorge Syndrome Complications

• Thymus Gland Dysfunction: Thymus gland is located under the breastbone where the T cells (one type of white blood cell) mature. These cells help to fight infection and heal the body. The thymus gland is missing or small in patients with the 22q11.2 syndrome, causing frequent health problems and abnormal immune function.
• Hypoparathyroidism:  There are four parathyroid glands in the neck that regulates phosphorus and calcium levels. This syndrome prevents parathyroid glands to secrete adequate PTH (parathyroid hormone) leading to hypoparathyroidism. It results in high phosphorus and low calcium levels in the blood.
• Heart Problems: DiGeorge syndrome causes some common heart defects which result in inadequate oxygen-rich blood supply. Common heart disorders include only one large vessel rather than two vessels, out of the heart (truncus arteriosus), hole in heart’s lower chambers (ventricular septal defect), and a combination of more than one heart problems.
• Mental, behavioral and learning problems: Apart from slowed physical growth, it also minimizes psychological growth. This syndrome interferes with the regular and developmental functions of the brain that results in behavioral and social developmental problems. In infants, delay in speech development and low learning abilities are common. Some infants also develop attention-deficit/ hyperactivity disorder (ADHD). In adulthood, anxiety disorders, depression or other mental health problems increases.
• Cleft Palate: Opening (cleft) roof of the mouth (palate), with or without a cleft lip is a prevalent condition with this syndrome. Other palate abnormalities make it difficult to produce certain speech sounds or difficulty in swallowing.
• Uncommon Facial Features: Distinct features like short eye openings, low and small set ears, relatively long face, hooded eyes, enlarged nose tip, flattened or short groove in the upper lip.
• Autoimmune Disorders: Due to weak immune systems, patients suffer from an increased risk of autoimmune disorders like Graves’ disease, rheumatoid arthritis, etc.
• Other Problems: Numerous medical conditions are associated with these syndromes which can become life-threatening, if not treated on time. Breathing and Kidney problems are one of them. Other common issues are short stature, vision and hearing impairment. Image Source: en.wikipedia.org

DiGeorge Syndrome Treatment

There is no specific medication for this syndrome, it is uncurable but the treatment depends upon the affected organs to correct the critical problems. It requires a wide range of professionals like:

• Cardiologists
• Pediatricians
• Immunologists
• Geneticists
• Surgeons
• Endocrinologists
• Infectious disease Specialists
• Therapists ( who can cure physical, mental, occupational, developmental disorders)

DiGeorge syndrome causes various types of problems and requires multiple types of treatments.

Hypoparathyroidism

The medication includes the supplementation with calcium or vitamin D with parathyroid hormone.

Limited thymus gland function

It affects the patient’s immune system and prevents to function properly resulting in frequent infections. Vaccine and treatment are essential to boost the condition. With proper treatment, the immune system becomes stronger with the child’s age.

Severe thymus dysfunction

It increases the risk of acute infection. Hence, bone marrow transplant, thymus tissue transplant, stem cell transplant or transplantation of disease-fighting blood cells is essential.

DiGeorge Syndrome Other Treatments

• To treat severe heart problems surgical repair is essential
• Surgery is mandatory to treat cleft palate abnormalities
• Language, Educational and Physiotherapy support are necessary to treat a child’s learning disabilities
• Mental health disorders might require treatment depending on the severity of the problem and diagnosis
• Other conditions can be managed by addressing growth and feeding issues

DiGeorge Syndrome Preventions

Rarely, this syndrome is passed from an affected parent to a child. DiGeorge is a genetic disease which is caused naturally, and there is no such prevention. But if a child inherits the problems genetically, parents should consult a physician to minimize the risk factors from developing.

DiGeorge Syndrome Pictures

 

Image Source: en.wikipedia.org Image Source: en.wikipedia.org