Summary
Oculo-digito-esophageal-duodenal syndrome (ODED) is characterised by the association of variable degrees of microcephaly with or without learning disabilities, short palpebral fissures, a deep nasal bridge with anteverted nostrils, ear anomalies and micrognathia, anomalies of the hands and feet, and oesophageal/duodenal atresia (exceptional anal atresia was described). It has been described in about 50 patients from 20 families. The hand anomalies include flexion deformity of the middle finger and clinodactyly of the second and fifth fingers due to hypoplasia of the middle phalanx. Foot anomalies include bilateral syndactyly of toes 2-3 and 4-5. Gastrointestinal manifestations are present in 30% of cases and mild intellectual deficiency is present in between 30 and 80% of the patients. Vertebral anomalies (clefts or blocks) were noted in one family. The causative gene has been localised to the 2p24-p23 region and haploinsufficiency for a gene or genes in 2p24-p23 appears to be associated with the ODED phenotype. *Author: Orphanet (October 2004)*.
