ABC Medical Center > Diseases > DiGeorge syndrome

What is DiGeorge syndrome?

21:56 - 4 May , 2021

Disease

It is a pathology caused by the absence of a part of chromosome22, which causes poor development of various body systems, causing heart disorders, immune system deficiency, cleft palate, developmental, behavioral, and emotional disorders, and health alterations that are due to organic calcium deficiency.

DiGeorge syndrome, which is also known as chromosome 22q11.2 deletion syndrome, is due to a random genetic mutation at the beginning of pregnancy, although it can also be transmitted from parents to children.

Signs and symptoms DiGeorge syndrome

The affected systems vary in each child, with some only having one or two symptoms, while others have several. Among the most common are:

  • Respiratory conditions.
  • Seizures.
  • Nutrition problems.
  • Recurrent infections.
  • Spaced eyes.
  • Underdeveloped chin.
  • Cleft palate.
  • Poor muscle strength.
  • Dental problems.
  • Learning difficulties.
  • Behavioral problems.
  • Gastrointestinal conditions.
  • Eye problems.
  • Delayed growth and development.
  • Cyanosis, which causes heart murmurs and bluish discoloration of the skin.

Diagnosis and treatment DiGeorge syndrome

To diagnose DiGeorge syndrome, the doctor will order lab tests to help detect the chromosome 22 deletion.

If there is a family history of the disease, your child may undergo prenatal testing, ultrasound, and MRI.

After delivery, the doctor may order the following tests:

  • Cardiac ultrasound.
  • MRI.
  • Computed tomography.

Although DiGeorge syndrome is currently incurable, the combination of treatments and therapies help solve cleft palate and heart disorders, as well as developmental, behavioral, and mental health problems.

Some babies may need surgery soon after birth to correct heart, breathing, or feeding problems.
If your child has been diagnosed with attention deficit hyperactivity disorder (ADHD), depression, autism spectrum disorder, or another mental health or behavioral problem, your doctor will recommend specialists who can support them in these cases.

Those who suffer from DiGeorge syndrome need to regularly see a multidisciplinary team to undergo a series of routine tests and to monitor its evolution.

In our Pediatric Center, a team of highly trained specialists awaits you 24 hours a day, 365 days a year, ensuring optimal care and results by providing care based on clinical practice guidelines and international protocols.

Related centers and departments

Pediatrics Center
Internal Medicine
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • mayoclinic.org.
  • kidshealth.org
  • stanfordchildrens.org
  • aboutkidshealth.ca
  • medilineplus.gov
  • healthychildren.org
  • medigraphic.com
  • Acosta-Aragón MA, Torres-Hernández D, Fletcher-Toledo T. Síndrome de DiGeorge/velocardiofacial: reporte de un caso. Medicina & Laboratorio. 2020;24(1):69-76.
  • Bellas S, Marín F, Sepúlveda A. Síndrome de DiGeorge. Conducta anestésica. Rev Mex Anest. 2011;34(4):309-312.
  • Gutiérrez GJ, Mijares MM. Síndrome de DiGeorge asociado a tetralogía de Fallot en dos hermanos. An Med Asoc Med Hosp ABC. 2010;55(2):92-96.
  • DomínguezCLG, SánchezLF, ArmentaFR. Síndrome de deleción 22q11.2 en adulto femenino: síndrome de Di. Acta Med. 2019;17(4):380-384.

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