Polymalformative condition characterized by
esophageal/duodenal atresia, limb abnormalities (hand/foot), short
palpebral fissures, microcephaly and learning disabilities.
MODED Syndrome; Brunner-Winter Syndrome; Oculodigitoesophagoduodenal Syndrome.
Incidence unknown. Autosomal
dominant with gene map locus at
Most common clinical features are microcephaly with
prominent occiput, mental retardation, narrow palpebral fissures,
telecanthus, retrognathia and low-set ears. The presence of a laryngeal cleft/vocal
cord palsy gives an abnormal cry and voice. The gastrointestinal defects include
esophageal atresia (EA) [with or without tracheoesophageal fistula (TEF) or duodenal
atresia (DA)], occurs in 30% of patients. Other features include a patent
ductus arteriosus, sacral spine anomalies (sagittal cleft), and blockage of
C5-C6 vertebrae. Neural arch fusion at C6-C7 has been reported. Short stature,
syndactyly of toes, brachydactyly type A, clinodactyly, slender thumbs with limited
flexion in the distal interphalangeal joint.
Evaluate the airway due to facial
malformations. Mental retardation may limit patient cooperation. Sedative
premedication and/or the presence of the primary caregiver may be helpful.
Airway management should be
expected to be difficult due to microretrognathia and potential
cervical motility problems. Patients with DA and/or TEF are at
increased risk for aspiration. The association of EA and TEF requires that the
tracheal tube be positioned below the level of the fistula to avoid gastric
distention during positive pressure ventilation. Venous access may be
difficult. Regional anesthesia is not contraindicated, but caudal anesthesia
may be difficult in presence of sacral anomalies.
Avoid neuromuscular blockers until
the airway has been secured.
Celli J, van Bokhoven H, Brunner HG: Feingold syndrome: clinical review and
genetic mapping. Am J Med Genet 122:294, 2003.