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GTR Home > Conditions/Phenotypes > Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Synonyms
Microphthalmia/coloboma and skeletal dysplasia syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCOPS14, MCSKS14, MAB21L2
    Summary: mab-21 like 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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