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At a glance

Polymalformative condition characterized by esophageal/duodenal atresia, limb abnormalities (hand/foot), short palpebral fissures, microcephaly and learning disabilities. It is considered similar to the VACTERL Syndrome (Vertebral defects, Anal atresia, Cardiac defects, TracheoEsophageal fistula, Renal anomalies, and Limb abnormalities) with in addition microcephaly and severe learning deficiencies.

Synonyms

Microcephaly-Oculo-Digito-Esophago-Duodenal Syndrome; MODED Syndrome; Brunner-Winter Syndrome; Oculodigitoesophagoduodenal Syndrome.

Incidence

Incidence unknown.

Genetic inheritance

It is believed to be inherited as autosomal dominant with gene map locus at 2p24.

Clinical aspects

Most common clinical features are microcephaly with prominent occiput, mental retardation, narrow palpebral fissures, telecanthus, retrognathia and low-set ears. The presence of 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.

Precautions before anesthesia

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. Special attention must be given during positioning of the patient in an attempt to prevent pressure points, especially with the hand and foot abnormalities.

Anesthetic considerations

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 intermittent positive pressure ventilation. Gastric distention in the neonatal period could lead to venous return decrease and severe hypotension as a result to intraabdominal distention. Venous access may be difficult. Regional anesthesia is not contraindicated, but caudal anesthesia may be difficult in presence of sacral anomalies.

Pharmacological implications

Avoid neuromuscular blockers until the airway has been secured.

Other condition to be considered

  • ☞VACTERL Syndrome (VATER Syndrome): Medical condition that affects many body systems. VACTERL is an acronym that stands for Vertebral defects, Anal atresia, Cardiac defects, TracheoEsophageal fistula, Renal anomalies, and Limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. The difference with the Feingold Syndrome is the absence of microcephaly and severe learning difficulties.

References

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Celli  J, van Bokhoven  H, Brunner ...

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