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GTR Home > Conditions/Phenotypes > Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

Summary

Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21, KMT2D
    Summary: lysine methyltransferase 2D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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