Chromosome 18q, distal deletion

[MIM 601 808]

(18q- syndrome, de Grouchy 18p deletion syndrome type 2)

Syndrome of contiguous genes following deletion of a more or less important part of the distal part of the long arm of chromosome 18 beyond 18q21.2. de novo mutation, but cases of autosomal dominant transmission have been described.

Variable association of :

-        short stature (80 %): growth hormone deficiency

-        intellectual development deficit

-        selective IgA deficiency (24 %)

-        cardiac anomalies: ASD, VSD, pulmonary stenosis, pulmonary valve aplasia with persistent ductus arteriosus

-        club feet, scoliosis

-        facial dysmorphism: wide ("carpal") mouth, cleft palate, low-set ears, short palpebral fissures

-        tapered fingers

Anesthetic implications:

echocardiography; in case of IgA deficiency, there is an increased risk of anaphylactic reaction upon administration of a blood derivative (presence of anti-IgA antibodies following previous exposure); short stature

References :

Updated: August 2023