DiGeorge syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that affects many parts of the body. It is caused by a small piece of chromosome 22 being missing or deleted.

Key Features:

• Heart abnormalities: DiGeorge syndrome can cause heart defects, such as holes in the heart or problems with the way blood flows through the heart.
• Impaired immune system: The condition can lead to an impaired immune system, making it harder for the body to fight off infections.
• Developmental delays: Children with DiGeorge syndrome may experience developmental delays, which can affect their physical and cognitive development.

Other Possible Symptoms:

• Cleft palate or other facial abnormalities
• Congenital heart defects
• Learning difficulties
• Small teeth or jaw problems
• Increased susceptibility to infections

Causes and Diagnosis: DiGeorge syndrome is caused by a deletion at 22q11.2, which can occur during fetal development. The condition is usually diagnosed through genetic testing, such as chromosome analysis.

References:

• [1] DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. (3)
• [2] 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. (4)
• [3] DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that can affect many parts of your body and causes heart abnormalities, an impaired immune system and developmental delays. If you’re diagnosed with DiGeorge syndrome, you’re missing a small piece of chromosome 22. (1)
• [4] The term DiGeorge syndrome is now reserved for individuals who have clinical features of 22q11.2DS but do not have an identified 22q11.2 deletion. (14)

DiGeorge Syndrome: A Rare Genetic Disorder

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a rare genetic disorder caused by the deletion of a small part of chromosome 22. This condition can cause a wide range of lifelong problems, including heart defects and learning difficulties.

Common Signs and Symptoms:

• Heart issues, such as problems with the structure of the heart and vessels, or a heart murmur and bluish skin due to poor circulation of blood (cyanosis) [1]
• Cleft palate or other congenital anomalies [5]
• Delays in learning to walk or talk and other developmental and learning delays [3]
• Heart problems are most likely to affect the aorta [3]
• A wide range of signs and symptoms, including heart defects, developmental delays, seizures, and effects on facial appearance [7]

Other Possible Symptoms:

• Feeding problems
• Immune system problems
• Hypoparathyroidism (a condition affecting the parathyroid glands)
• Congenital heart defect

Diagnosis and Treatment:

DiGeorge syndrome is a lifelong condition without a cure. The outlook depends on the severity of symptoms, and treatment is unique for each individual. Early detection through genetic testing can help prepare for the baby's care after birth.

Prevalence:

DiGeorge syndrome occurs in about 1 in 4,000 people [14]. The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body.

References: [1] - Symptoms of DiGeorge syndrome may include heart issues... (Search Result 1) [3] - If a child has DiGeorge syndrome, parents or caregivers may notice that they have: delays in learning to walk or talk... (Search Result 3) [5] - A patient with DiGeorge syndrome is missing a segment in one copy of chromosome 22 at a location called q11.2 (22q11.2 deletion syndrome)... (Search Result 12) [7] - Children with 22q11.2 deletion syndrome can have a wide range of signs and symptoms... (Search Result 8) [14] - Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems... (Search Result 14)

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, can be diagnosed through various laboratory tests and examinations.

• Blood tests: Blood tests are a primary method for diagnosing DiGeorge syndrome. These tests can detect the deletion in chromosome 22 and evaluate T-cell and parathyroid function [1][3][5].
• FISH analysis (Fluorescent In Situ Hybridization): FISH analysis is a blood test that can confirm a diagnosis of DiGeorge syndrome by detecting the deletion in chromosome 22 [6].
• Genetic tests: Genetic tests, such as prenatal testing and amniocentesis, can also be used to detect DiGeorge syndrome before birth or soon after birth [2][7].
• Physical examination and medical history: A physical examination and medical history can help identify characteristic facial features, cleft lip and palate, growth delays, and other symptoms associated with DiGeorge syndrome [8].

It's worth noting that a diagnosis of DiGeorge syndrome is often made based on a combination of these tests and examinations.

References: [1] Jan 13, 2024 — A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. [3] Blood tests to evaluate T-cell and parathyroid function are done. Ig levels and vaccine titers are measured. [5] Blood tests to evaluate T-cell and parathyroid function are done. [6] Jun 18, 2018 — Diagnosis. DiGeorge syndrome is most commonly diagnosed with a blood test called a FISH analysis (Fluorescent In Situ Hybridization). [7] Doctors do genetic tests to confirm a diagnosis of 22q. This may happen: Before birth. If a pregnant woman has a family history of 22q or a prenatal test indicates the possibility of DiGeorge syndrome. [8] Nov 3, 2020 — Key diagnostic factors · cyanosis · signs of heart failure · heart murmur · characteristic facial features · cleft lip and palate · growth ...

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder that affects various bodily systems. While there is no cure for the condition, treatment options are available to manage its symptoms and complications.

Medications Used in DiGeorge Syndrome

Several medications have been found to be effective in treating various aspects of DiGeorge syndrome:

• Antipsychotics: Studies have shown that antipsychotic medications can reduce schizophrenia symptoms and hospitalizations in individuals with 22q11.2DS [5]. Antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), may also be effective while being relatively safe [6].
• Calcium and Vitamin D Supplementation: In cases of partial DiGeorge syndrome, hypoparathyroidism can be treated with calcium and vitamin D supplementation. This treatment helps manage the condition without affecting long-term survival [9].

Other Treatment Options

In addition to medications, other treatments may be necessary to address specific complications associated with DiGeorge syndrome:

• Cardiac Issues: Children with DiGeorge syndrome often require medical attention for cardiac problems. Medications such as sulfamethoxazole and trimethoprim (Bactrim, Septra) can be used for prophylaxis [3].
• Immune System Reconstitution: In some cases, allogeneic processed thymus tissue (Rethymic) has been approved to reconstitute immunity in children with congenital athymia [2].

Monitoring and Management

Children and adults with DiGeorge syndrome require close monitoring to check for potential problems. These can be addressed through various treatments, including medications and surgical or catheter interventions as needed [7].

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, has several differential diagnoses that can present similar symptoms and characteristics.

• Smith-Lemli-Opitz syndrome: This is a genetic disorder caused by a deficiency in the enzyme 7-dehydrocholesterol reductase, leading to impaired cholesterol synthesis. Like DiGeorge syndrome, it can cause facial abnormalities, congenital heart defects, and developmental delays [2].
• CHARGE syndrome: A rare genetic disorder characterized by coloboma of the eye, heart defects, choanal atresia, restricted growth, and ear anomalies. Some patients with CHARGE syndrome may also exhibit symptoms similar to DiGeorge syndrome, such as hypoplasia of the thymus [3].
• Alagille syndrome: A genetic disorder affecting the liver, heart, and other organs. It can cause facial abnormalities, congenital heart defects, and developmental delays, which are similar to those seen in DiGeorge syndrome [2].
• VATER syndrome: A rare congenital disorder characterized by vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, and radial dysplasia. Some patients with VATER syndrome may also exhibit symptoms similar to DiGeorge syndrome, such as hypoplasia of the thymus [3].
• Goldenhar syndrome: A rare genetic disorder characterized by hemifacial microsomia, epibulbar dermoids, and congenital heart defects. Like DiGeorge syndrome, it can cause facial abnormalities and developmental delays [2].
• Isotretinoin embryopathy: A condition caused by exposure to isotretinoin during pregnancy, leading to birth defects such as craniofacial abnormalities, cardiac defects, and developmental delays. Some patients with isotretinoin embryopathy may also exhibit symptoms similar to DiGeorge syndrome [2].

It's essential to note that differential diagnosis is a process of ruling out other possible conditions that may present similar symptoms. A comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose DiGeorge syndrome or any other condition.

References: [1] Oct 14, 2021 — Diagnosis of 22q11.2DS is based on abnormal characteristic facial features, abnormalities of the palate, congenital cardiac malformations, ... [2] Oct 14, 2021 — Differential diagnosis includes Smith-Lemli-Opitz syndrome, CHARGE syndrome, Alagille syndrome, VATER syndrome, Goldenhar syndrome and isotretinoin embryopathy. [3] by CM Seroogy · Cited by 1 — Overview — The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia, and they ...