[MIM 164 280]

(acronym for Microcephaly-Ocular-Digital-Esophago-Duodenal)

(Feingold 1 Syndrome, Brunner-Winter syndrome, oculo-digito-tracheo-duodenal syndrome)

Very rare: < 1/1.000.000. Autosomal dominant transmission of a mutation of the N-MYC gene (2p24-p23).

Association of:

-        microcephaly with moderate mental retardation (83 %) 

-        facial dysmorphism with short palpebral fissures, micrognathia, low implanted ears and anteverted nostrils (52%)

-        anomalies of the hands: hypoplasia or absence of medial phalanges, syndactyly especially at the level of the toes 2-3 and 4-5 (96 %)

-        esophageal (32 %) and/or duodenal (31 %) atresia; multiple atresias are present in 12 % of cases.

-        vertebral anomalies

-        cardiac (18 %) or renal (15 %) anomalies

Anesthetic implications:

according to the associated digestive malformations. Echocardiography. Risk of difficult intubation.

References:

-        Alessandri JL, Graber D, Tiran-Rajaofera I, Montbrun A et al.
Syndrome de Feingold.
Arch Pédiatr 2000 ; 7 :637-40.

Updated: July 2019