Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia
Definition
Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene.
Also known as arhinia choanal atresia microphthalmia, arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, arrhinia-choanal atresia-microphthalmia syndrome, BAM syndrome, BAMS, Bosma Arhinia Microphthalmia Syndrome, Bosma arhinia-microphthalmia syndrome, Bosma Henkin Christiansen syndrome, Bosma syndrome, Bosma-Henkin-Christiansen syndrome, Gifford-Bosma syndrome, hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, Ruprecht Majewski syndrome — per MONDO