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GTR Home > Conditions/Phenotypes > Breasts and/or nipples, aplasia or hypoplasia of, 2

Breasts and/or nipples, aplasia or hypoplasia of, 2

Summary

Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009). For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700. [from OMIM]

Available tests

4 tests are in the database for this condition.

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Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BNAH2, LAR, PTPRF
    Summary: protein tyrosine phosphatase receptor type F

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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