DiGeorge syndrome
Chromosome deletion disorder
DiGeorge syndrome is a genetic disorder caused by a deletion on chromosome 22, resulting in poor development of several body systems.
It typically affects the thymus (causing immune deficiency), parathyroid glands (causing low calcium), and heart.
Facial abnormalities and developmental delays are common.
Severity varies widely—some cases are mild, others life-threatening.
Also called 22q11.2 deletion syndrome.
Weakened disease-fighting capacity
- recurrent infectionsRepeatedly returning illness episodes
Deficient serum calcium levels
Quadruple congenital heart anomaly
- cardiac surgeryProcedures on the heart
- echocardiogramUltrasound of the heart
- cyanosisBlue skin from low oxygen
- heart murmurAbnormal cardiac sound
Slower than typical language acquisition
- learning disabilitiesNeurological conditions affecting acquisition
- developmental delaySlower-than-typical milestone achievement
- autism spectrumRange of neurodevelopmental conditions
- ADHDNeurodevelopmental focus impairment
behavioral problems · early intervention · special education · cognitive impairment · psychiatric disorders · anxiety
Congenital oral roof opening
- speech therapyTreatment for communication disorders
- feeding difficultiesImpaired ability to eat
Lone working allele inadequate
- genetic testingAnalysis for inherited disorders
- FISHChromosome sequence visualization method
- genetic counselingGuidance on inherited conditions
- prenatal diagnosisMedical assessment of fetus
immunodeficiency
Weakened disease-fighting capacity
- recurrent infectionsRepeatedly returning illness episodes
hypocalcemia
Deficient serum calcium levels
tetralogy of Fallot
Quadruple congenital heart anomaly
- cardiac surgeryProcedures on the heart
- echocardiogramUltrasound of the heart
- cyanosisBlue skin from low oxygen
speech delay
Slower than typical language acquisition
- learning disabilitiesNeurological conditions affecting acquisition
- developmental delaySlower-than-typical milestone achievement
- autism spectrumRange of neurodevelopmental conditions
ADHD · behavioral problems · early intervention · special education · cognitive impairment · psychiatric disorders · anxiety
cleft palate
Congenital oral roof opening
- speech therapyTreatment for communication disorders
- feeding difficultiesImpaired ability to eat
haploinsufficiency
Lone working allele inadequate
- genetic testingAnalysis for inherited disorders
- FISHChromosome sequence visualization method
- genetic counselingGuidance on inherited conditions
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- SyndromesGuillain-Barre, restless leg, irritable bowel, IBS, chronic fatigue
- chromosome abnormalitiestrisomy, deletion, duplication, translocation, inversion
- birth defectsbirth defect, birth defects, malformation, cleft lip, cleft palate
- Genetic SyndromesBRCA1, neurofibromatosis, tuberous sclerosis, progeria, cystic fibrosis
- Immune WeaknessHIV, AIDS, chemotherapy, immunosuppressants, leukemia
DiGeorge syndromeacquired immune deficiency syndrome
HIV-caused immune failure