DiGeorge syndrome

Michaeli M

@michaelimarler

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.

Grabs

Hearts

Michaeli M

@michaelimarler

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.

Digeorge syndrome (22q11.2 deletion syndrome) - causes, symptoms, & pathology - YouTube
What is DiGeorge syndrome? DiGeorge syndrome, or 22q11.2 deletion syndrome is where a small portion of DNA on chromosome 22 is deleted, which results in seve...
https://www.youtube.com/watch?v=YdDs92gaWl8
DiGeorge Syndrome - Developmental and Behavioral Pediatrics - Golisano Children's Hospital - University of Rochester Medical Center
22q11.2 deletion syndrome is a genetic disorder. In this syndrome, a tiny piece of chromosome 22 is missing. This can cause many medical problems. These problems may range from heart defects and developmental delays to seizures and effects on facial appearance. These might include cleft palate (an opening in the roof of the mouth).
https://www.urmc.rochester.edu/childrens-hospital/developmental-disabilities/conditions/digeorge-syndrome.aspx
DiGeorge syndrome: Causes, symptoms, and treatment
Learn about DiGeorge syndrome, a disorder of the chromosomes in which one important chromosome is deleted. This causes a range of systems in the body to develop poorly and may result in respiratory issues, spasms, and abnormal facial features. This article explores the causes, symptoms, and treatment of this condition.
https://www.medicalnewstoday.com/articles/308533.php
22q11.2 Deletion Syndrome - NIH
22q11.2 deletion syndrome (which is also known by several other names, listed below) 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.
https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
DiGeorge Syndrome | Immune Deficiency Foundation
DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections.
https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome
DiGeorge syndrome (22q11.2 deletion syndrome) - Symptoms and causes - Mayo Clinic
DiGeorge syndrome (22q11.2 deletion syndrome) is a disorder caused by a defect in chromosome 22, resulting in poor development of several body systems.
https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543
DiGeorge syndrome - Wikipedia
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.[7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay,
https://en.wikipedia.org/wiki/DiGeorge_syndrome

DiGeorge syndrome
Other names	DiGeorge anomaly,^[1]^[2] velocardiofacial syndrome (VCFS),^[3] Shprintzen syndrome,^[4] conotruncal anomaly face syndrome (CTAF),^[5] Takao syndrome,^[6] Sedlackova syndrome,^[7] Cayler cardiofacial syndrome,^[7] CATCH22,^[7] 22q11.2 deletion syndrome^[7]

A child with characteristic facial features of DiGeorge syndrome
Specialty	Medical genetics
Symptoms	Varied; commonly congenital heart problems, specific facial features, cleft palate^[7]
Complications	Kidney problems, hearing loss, autoimmune disorders^[7]
Causes	Genetic (typically new mutation)^[7]
Diagnostic method	Based on symptoms and genetic testing^[5]
Differential diagnosis	Smith–Lemli–Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum^[5]
Treatment	Involves many healthcare specialties^[5]
Prognosis	Depends on the specific symptoms^[3]
Frequency	1 in 4,000^[7]

Source : Wikipedia under CC-BY-SA license

Links
Media

Digeorge syndrome (22q11.2 deletion syndrome) - causes, symptoms, & pathology - YouTube
What is DiGeorge syndrome? DiGeorge syndrome, or 22q11.2 deletion syndrome is where a small portion of DNA on chromosome 22 is deleted, which results in seve...
https://www.youtube.com/watch?v=YdDs92gaWl8
DiGeorge Syndrome - Developmental and Behavioral Pediatrics - Golisano Children's Hospital - University of Rochester Medical Center
22q11.2 deletion syndrome is a genetic disorder. In this syndrome, a tiny piece of chromosome 22 is missing. This can cause many medical problems. These problems may range from heart defects and developmental delays to seizures and effects on facial appearance. These might include cleft palate (an opening in the roof of the mouth).
https://www.urmc.rochester.edu/childrens-hospital/developmental-disabilities/conditions/digeorge-syndrome.aspx
DiGeorge syndrome: Causes, symptoms, and treatment
Learn about DiGeorge syndrome, a disorder of the chromosomes in which one important chromosome is deleted. This causes a range of systems in the body to develop poorly and may result in respiratory issues, spasms, and abnormal facial features. This article explores the causes, symptoms, and treatment of this condition.
https://www.medicalnewstoday.com/articles/308533.php
22q11.2 Deletion Syndrome - NIH
22q11.2 deletion syndrome (which is also known by several other names, listed below) 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.
https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
DiGeorge Syndrome | Immune Deficiency Foundation
DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections.
https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome
DiGeorge syndrome (22q11.2 deletion syndrome) - Symptoms and causes - Mayo Clinic
DiGeorge syndrome (22q11.2 deletion syndrome) is a disorder caused by a defect in chromosome 22, resulting in poor development of several body systems.
https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543
DiGeorge syndrome - Wikipedia
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.[7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay,
https://en.wikipedia.org/wiki/DiGeorge_syndrome

DiGeorge syndrome
Other names	DiGeorge anomaly,^[1]^[2] velocardiofacial syndrome (VCFS),^[3] Shprintzen syndrome,^[4] conotruncal anomaly face syndrome (CTAF),^[5] Takao syndrome,^[6] Sedlackova syndrome,^[7] Cayler cardiofacial syndrome,^[7] CATCH22,^[7] 22q11.2 deletion syndrome^[7]

A child with characteristic facial features of DiGeorge syndrome
Specialty	Medical genetics
Symptoms	Varied; commonly congenital heart problems, specific facial features, cleft palate^[7]
Complications	Kidney problems, hearing loss, autoimmune disorders^[7]
Causes	Genetic (typically new mutation)^[7]
Diagnostic method	Based on symptoms and genetic testing^[5]
Differential diagnosis	Smith–Lemli–Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum^[5]
Treatment	Involves many healthcare specialties^[5]
Prognosis	Depends on the specific symptoms^[3]
Frequency	1 in 4,000^[7]

Source : Wikipedia under CC-BY-SA license

Enter username for account

Enter username for account

Not a member of NMPED Community!

DiGeorge syndrome

Logged Out