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GTR Home > Conditions/Phenotypes > Microphthalmia with limb anomalies

Microphthalmia with limb anomalies

Synonyms
ANOPHTHALMIA-SYNDACTYLY; Anophthalmia Waardenburg syndrome; Anophthalmos with limb anomalies; Anophthalmos-syndactyly; MICROPHTHALMIA AND LIMB ANOMALIES; Ophthalmoacromelic syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome (OAS), is a rare autosomal recessive developmental disorder characterized by unilateral or bilateral microphthalmia, clinical anophthalmia, syndactyly, polydactyly, synostosis, or oligodactyly. Long-bone hypoplasia and renal, venous, and vertebral anomalies may also be present. Impaired intellectual development is present in about half of affected individuals (summary by Tekin et al., 2000, Abouzeid et al., 2011). [from OMIM]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OAS, SMOC1
    Summary: SPARC related modular calcium binding 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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