Rare genetic developmental defect during embryogenesis Rare genetic intellectual disability with developmental anomaly Upper limb defect - eye and ear abnormalities OMIM:274205 ICD10:Q87.8 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. orphanet