Absence of Nose, Adult Muscular Dystrophy Linked to Mutations in SMCHD1 Gene | GenomeWeb

NEW YORK (GenomeWeb) – Mutations in the SMCHD1 gene appear to be behind congenital arhinia, a condition in which a nose does not form, an international team of researchers has found.

Arhinia is rare, having been first reported in 1981 and in fewer than 50 patients since then. Because children with the condition don't have nasal airways, they often have to undergo tracheotomies and lack a sense of smell. Eye and reproductive issues have also been noted.

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