Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. The disease is Monarch Disease Ontology entry MONDO_0010125 (upper limb defect-eye and ear abnormalities syndrome).