Colobomatous microphthalmia-rhizomelic dysplasia syndrome

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Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Synonyms: Microphthalmia-coloboma-rhizomelic skeletal dysplasia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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