MONDO_0014380 (colobomatous microphthalmia-rhizomelic dysplasia syndrome) is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Also known as: microphthalmia, syndromic type 14, microphthalmia-coloboma-rhizomelic skeletal dysplasia.