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GTR Home > Conditions/Phenotypes > Arrhinia with choanal atresia and microphthalmia syndrome

Arrhinia with choanal atresia and microphthalmia syndrome

Synonyms
ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM; Arhinia choanal atresia microphthalmia; Arhinia, choanal atresia, and microphthalmia; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx

Summary

Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by Graham and Lee, 2006). Also see absence of nasal bones (161480). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAMS, FSHD2, SMCHD1
    Summary: structural maintenance of chromosomes flexible hinge domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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