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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Colobomatous microphthalmia-rhizomelic dysplasia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.