/colobomatous microphthalmia-rhizomelic dysplasia syndrome

colobomatous microphthalmia-rhizomelic dysplasia syndrome

Rare Disease

MONDO:0014380

Also Known As

microphthalmia, syndromic type 14microphthalmia-coloboma-rhizomelic skeletal dysplasiaMCOPS14MCSKSmicrophthalmia and coloboma, with or without rhizomelic skeletal dysplasiamicrophthalmia or coloboma with or without rhizomelic skeletal dysplasiamicrophthalmia, syndromic 14microphthalmia/coloboma and skeletal 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.