[MIM 609 029]

(supernumerary der 22 chromosome syndrome, der (22) t 11; 22 syndrome)

Very rare. Chromosomal abnormality with an extra chromosome (der 22) consisting of additional genetic material from the parental chromosome 11 and 22 . Generally, one parent, usually the mother, carries a balanced translocation 11; 22. It is asymptomatic but entails an increased risk of breast cancer.

These children present:

-         a particular facies: microcephaly, retrognathia, preauricular appendages, arched or cleft palate (50%),  downslanting palpebral fissures

-         severe mental retardation

-         growth retardation

-         a cardiac malformation (60 %) (conotroncular type), generally acyanotic

-         renal anomalies (20-30 %): agenesis, hypoplasia

-         genital anomalies in boys: micropenis, cryptorchidism

-         anal atresia in 20 % of cases

-         a sacral dimple in 25 % of cases

and sometimes:

-         hypoplasia of the diaphragm with congenital diaphragmatic hernia

-         supernumerary rib and/or clavicular anomalies

-         Hirschsprung disease 

-        intestinal atresia

The vital prognosis is bad:  early death with palliative care is common.

Anesthetic implications: 

difficult intubation, check cardiac echography as well as renal function; ultrasound examination of the spinal cord (spina bifida occulta?) if a neuraxial block is planned.

References : 

-        Medne L, Zackai EH, Emanuel DS. 
Emanuel syndrome. 
Gene reviews NCBI Bookshelf. May 2010

-        Drum TE, Herlich A, Levine B, Mayhew JF. 
Anesthesia in a patient with chromosome 11;22 translocation : a case report and literature review.
Pediatr Anesth 2005; 15: 985-7

-        Nishinarita R, Mihara T, Nakamura N, Miyamoto Y, Ka K. 
Anesthetic management of pediatric patients with Emanuel syndrome. 
J Anesth 2015 ; 29 : 450-2. 

-        Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DL, Hollinger LE.
Emanuel syndrome and congenital diaphragmatic hernia: A systematic review.
J Pediatr Surg 2022 ;  57 : 24–8

Updated: October 2022