[MIM 147 791]

(syndrome 11q, distal deletion 11q, telomeric deletion  11q, distal monosomy 11q)

Rare: 1/100,000 births. 85% of cases are due to a de novo deletion of a more or less important part of the long arm of chromosome 11. It is a contiguous genes syndrome involving multiple congenital anomalies, according to the size of the deletion.

Twice more common among girls than among boys.

Association of:

-         pre - and postnatal growth delay

-         craniofacial dysmorphism: trigonocephaly, low-set ears, ptosis, downslanting palpebral fissures , hypertelorism, broad nasal bridge, micro or retrognathia, malformation of the palate

-         cardiac malformation (> 50 %): VSD, obstacle to the ejection of the LV (mitral or aortic valve), coarctation of the aorta, hypoplasia of the LV

-         thrombocytopenia known as the Paris-Trousseau (95 %) anomaly: thrombocytopenia sometimes pancytopenia; thrombocytopenia is improving with age but wide poorly functional immature platelets are found in peripheral blood smear; severe hemorrhagic risk from birth (cerebral bleeding).

-         occasionally pituitary abnormalities: hypothyroidism, growth hormone or cortisol deficiency

-         sometimes: retinal anomalies, coloboma, hearing impairment, hypotonia, mental retardation

-         possible association with autistic-like behavior

20% of cases die within the first two years of life of cardiac problems or bleeding.

Anesthetic implications: 

cardiac echography, endocrinological opinion, risk of difficult intubation, check hemostasis and plan to transfuse platelets in case of bleeding. Perioperative thromboelastography.

References : 

-         Easley RB, Sanders D, McElrath-Schwartz J, Martin J, Redmond JM. 
Anesthetic implications of Jacobsen syndrome. 
Pediatr Anesth 2006 ; 16 : 66-71.

-         Akshoomoff N, Mattson SN, Grossfeld PD. 
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. 
Genetics in Medicine 2015; 17: 143-8.  

-        Takeda C, Hirotsu A, Yasuhara G, Mizuno A, Tatsumi K, Kawamoto S.
Utility of thromboelastogram in cardiac surgery in Jacobsen syndrome associated with platelet dysfunction: a case report.
JA Clinical Reports 2022 ;  8:67 doi.org/10.1186/s40981-022-00557-w

Updated: June 2023