Bosma arhinia microphthalmia syndrome

Bosma arhinia microphthalmia syndrome
Other names
  • Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
  • Bosma syndrome
SpecialtyMedical genetics
Symptoms
CausesMutations in SMCHD1 gene

Bosma arhinia microphthalmia syndrome' (BAMS), Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, or just Bosma syndrome is a rare genetic disorder characterized by nasal and ocular abnormalities, often accompanied by endocrine dysfunction.

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