Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Definition
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-coloboma-rhizomelic skeletal dysplasia, microphthalmia, syndromic type 14 — per MONDO