Microdeletion 22q11.2

[MIM 188 400192 430]

(acronym for Cardiac anomaly, Abnormal facies, Thymic hypoplasia, Cleft palate and Hypocalcemia)

(Di George Syndrome or sequence, Shprintzen velocardiofacial syndrome, Cayley cardiofacial syndrome [with facial asymmetry during crying], Takao syndrome, Sedlockova syndrome, conotruncal and facial anomalies syndrome,chromosome 22q11.2 microdeletion, monosomy 22q11)

Incidence estimated at 1/2,000 births. Microdeletion of the long arm of chromosome 22q11.2. Autosomal dominant transmission in 10-20 % of cases, but most cases are sporadic. The phenotype varies widely with the number of genes  included in the deletion (30-40): the tissues  originating embryologically from the cranial portion of the neural crest cells which migrate to the 3rd and 4th pharyngeal pouches during the 4th week of pregnancy are involved.

The deletion of 10pter (see this term) may presents with a similar phenotype but associated with other anomalies including urogenital defects.


The typical form includes:

-        a conotruncal congenital cardiopathy (25 %): truncus arteriosus, VSD, tetralogy of Fallot, interruption of the aortic arch,  arteria lusoria

-         a characteristic facies (60 %): long and narrow nose with hypoplastic wings, a bulbar tip and a short root; thin lips with a short philtrum ('fish' mouth), micrognathia with midface hypoplasia; palatal abnormalities: total or submucosal cleft, bifid uvula ; pharyngeal hypotonia with swallowing disorders (velopharyngeal paralysis) and rhinolalia; hypertelorism and almond-shaped eyes; small often asymmetric round ears

-        slender fingers, syndactyly between the 2nd and 3rd toes

-        short trachea, laryngeal or subglottic stenosis; congenital laryngeal web; sometimes tracheo-esophageal fistula

-        deficiency in T lymphocytes due to thymic hypoplasia: deficiency in T lymphocytes, sometimes deficiency in IgG, IgA or IgM, frequent infections

-        neonatal hypocalcemia due to agenesis/hypoplasia of the parathyroid glands; this hypocalcemia usually disappears during the first year of life due to progressive hyperplasia of the parathyroid tissue, but some patients have latent hypoparathyroidism that can be revealed during the perioperative period

-        sometimes hypothyroidism, growth hormone deficiency,

-        the carotid arteries have a very medial and tortuous course in 25 % of cases;

-        posterior embryotoxon at ophthalmoscopy; tortuous retinal vessels.

-        thrombocytopenia in 12 to 28 % of cases: often moderate ( > 100.000/mL). It is of macrocytic type and due to a defect in the Ibβ glycoprotein. A thrombocytopathy can be associated.


Slight retardation of the intellectual development in 40-50 % of cases. The majority of patients have learning problems (speech, manipulation of small objects). Anxiety and mood disorders. Sometimes obsessive-compulsive disorder. Significant risk of schizophrenia in adolescence (auditory hallucinations) requiring treatment with neuroleptics (Risperdal ©).

Sometimes: urogenital malformations (vesicoureteral reflux, hypospadias, ectopic kidney,  nephrocalcinosis, etc); celiac disease; skeletal malformations (hemivertebrae, supernumerary rib); cerebral atrophy or cerebellar hypoplasia.


Anesthetic implications: 

cardiac assessment. Risk of difficult intubation, short trachea , susceptibility to infection, puncture of the jugular vein under ultrasound guidance. Immune deficit. Transfusion with irradiated blood products. In case of IgA deficiency, use blood products without IgA to prevent the development of anti-IgA antibodies. Check blood platelets count.


References :    

-        Singh VP, Agarwal RC, Sanyal S, Waghray MR, Luthra ML, Borcar JM. 
Anesthesia for DiGeorge's syndrome. 
J Cardiothorac Vasc Anesth 1997; 11:811.

-           Yotsui-Tsuchomochi H, Hga K, Matsunaga M, Nitahara K, Shono S. 
Anesthetic management of a child with chromosome 22q11 deletion syndrome. 
Pediatr Anesth 2006; 16: 454-7.

-           Schneider M, Eliez S. 
La microdélétion 22q11.2. 
Arch Pédiatr 2010 ; 17 : 431-4.

-           Becker C, Ridder GJ, Pfeiffer J. 
The clinical impact of aberrant internal carotid arteries in children. 
Int J Pediatr Otorhinolaryngol 2014; 78: 1123-7.

-        Kienle F, Münster T, Wurm J, Prottengeier J. 
Anaesthesia for orphan disease: 22q11.2 microdeletion disorder (Di George syndrome). 
Eur J Anaesthesiol 2015 ; 32 : 888-9. 

-        Yeoh TY, Scavonetto F, Hamlin RJ, Burkhart HM, Sprung J, Weingarten TN.
Perioperative management of patients with DiGeorge syndrome undergoing cardiac surgery.
J Cardiothorac Vasc Anesth 2014; 28: 983-9.

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018; 31: 160-7.


Updated: September 2022