MODED: Microcephaly‐oculo‐digito‐esophageal‐duodenal syndrome

Abstract

We report on 4 families with microcephaly, type A brachydactyly, variable learning disabilities, short stature, duodenal atresia, patent ductus arteriosus (PDA), hallux valgus, restricted elbow and finger movements, and amesophalangy and syndactyly of toes. Three previous families manifested all signs of the syndrome, and in another four reports the phenotype was incomplete. These cases are reviewed. Penetrance of digital and toe anomalies is almost complete and microcephaly is present in 78% of known cases. Short stature was present in 70% of our cases, but this is probably an overestimation. Esophageal and duodenal atresias were present in 25% of known cases. Correction for ascertainment bias gave a lower estimate of 16.6%. Learning disabilities were present in 31% of all patients. Longitudinal follow-up suggested that hypoplasia or absence of the diaphyseal ossification centers is the primary cause of the phalangeal changes. Observations in a 9-year-old girl, followed since age 3.3, suggest that the eventual absence of the middle phalanges of the toes may be caused by fusion. Am. J. Med. Genet. 71:251–257, 1997. © 1997 Wiley-Liss, Inc.