[1] Common craniofacial abnormalities include a high-arched or cleft palate, absence of paranasal sinuses, choanal atresia, and a hypoplastic maxilla.
[4][2][5] These mutations are typically de novo and occur in the N-terminal GHKL-type ATPase domain, suggesting a gain-of-function effect that disrupts normal nasal and ocular development.
[8][9] Bosma arhinia microphthalmia syndrome is typically diagnosed at birth due to its distinct facial features, such as the absence of the nose and small or absent eyes.
[3][1][10] Due to potential endocrine dysfunctions associated with BAMS, hormonal evaluations may be conducted to assess for hypogonadotropic hypogonadism, which is common in affected individuals.
Given the complexity and rarity of the syndrome, a multidisciplinary approach is often required, involving specialists such as pediatricians, endocrinologists, ophthalmologists, and craniofacial surgeons.
This may involve multiple staged surgeries to create a nasal structure that allows for normal breathing and enhances facial aesthetics.
[4][10] Given the visible nature of craniofacial differences and potential social challenges, psychological support and counseling are often recommended for patients and their families.
[4][1] Bosma arhinia microphthalmia syndrome is an extremely rare genetic disorder, with fewer than 100 reported cases worldwide.