Prevalence < 1/106. Variable deletion of the long part of chromosome 6.

Variable association of:

-        hypotonia (82 %)

-        mental retardation (90 %)

-        post-natal growth retardation (68 %)

-        ear anomalies

-        more rarely: micrognathia, cardiac malformation, microcephaly

Depending on the location of the deletion, a distinction is made between

-        group A: from 6q11 to 6q16: hernias, thin lips, upslanting palpebral fissures

-        group B: from 6q15 to 6q25: intrauterine growth retardation, hypertelorism, respiratory anomalies, upper limb malformations

-        group C: from 6q25 to 6qter: cleft palate, hypoplasia of the external genitalia, retinal anomalies

Anesthetic implications:

according to the associated malformations; echocardiography

References:

-        Hopkin RJ , Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C et al.
New insights into the phenotypes of 6q deletions. 
Am. J. Med. Genet 1997; 70:377-86

-        Donahue ML, Rohena  LO.
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.
Clin Case Rep. 2017; 5: 905–14

Updated: August 2023