Colobomatous microphthalmia-rhizomelic dysplasia syndrome

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, MCOPS14, MCSKS, microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia, microphthalmia or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia, syndromic 14, microphthalmia/coloboma and skeletal dysplasia syndrome

44 clinical trials for this condition and its sub-types.