Synonym: ODED syndrome, oculodigitoesophagoduodenal syndrome)
Chromosome: 2p24.3
Gene: MYCN (N-myc proto-oncogene protein)
Inheritance: autosomal dominant
Clinical features:
(1) digital anomalies (see below)
(2) microcephaly
(3) short palpebral fissures
(4) gastrointestinal atresias (esophagus, duodenum)
(5) micrognathia
(6) mild to moderate learning disability
Digital anomalies include:
(1) thumb hypoplasia
(2) toe syndactyly (second and third, fourth and fifth)
(3) clinodactyly of the fifth finger
(4) shortening of the second and fifth middle phalanx of the hand (brachymesophalangy)
Other problems may include:
(1) cardiac malformations
(2) renal malformations
(3) hearing loss
