Medical Definition of Bosma arhinia microphthalmia syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Bosma arhinia microphthalmia syndrome: an extremely rare congenital condition causing birth defects, with less than 100 reported individuals affected worldwide. It is characterized by underdevelopment of the eyes (microphthalmia), absence of the nose (arrhinia), and absent sexual maturation. The degree of severity of the defects can vary. Affected people typically have normal intelligence and can lead productive lives with surgical correction of the defects. The cause is poorly understood, and the only known genetic mutation involves the gene SMCHD1. In most cases, this change occurs spontaneously in the egg or sperm cell and is not inherited from a parent. Also known as BAM syndrome, Bosma syndrome, Gifford-Bosma syndrome.

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Reviewed on 10/30/2018

REFERENCES:

Brasseur et al. Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. Am J Med Genet A. 2016 May;170A(5):1302-7. Epub 2016 Feb 3.

National Organization for Rare Disorders. "Bosma Arrhinia Microphthalmia Syndrome." Published 2017.
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