Oculo-digito-esophagoduodenal syndrome

Definition

Oculo-digito-esophago-duodenal syndrome (ODED) is a rare genetic disorder characterized by multiple conditions including various hand and foot abnormalities, small head (microcephaly), incompletely formed esophagus and small intestine (esophageal/duodenal atresia), an extra eye fold (short palpebral fissures), and learning disabilities.

Description

Individuals diagnosed with oculo-digito-esophagoduodenal syndrome usually have a small head (microcephaly), fused toes (syndactyly), shortened fingers (mesobrachyphalangy), permanently outwardly curved fingers (clinodactyly), an extra eyelid fold (palpebral fissures), and learning delays. Other features can include backbone abnormalities (vertebral anomalies), an opening between the esophagus and the windpipe (tracheoesophageal fistula),...

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