Bosma Arhinia Microphthalmia Syndrome Overview
Learn About Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.
BAMS is usually caused by mutations in the SMCHD1 gene. Other, unknown genes may be rare causes of the condition.
BAMS is a very rare condition with an unknown prevalence. Fewer than 100 cases of the condition have been described in the medical literature. BAMS has been found in several different populations.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SMCHD1 gene in each cell is sufficient to cause the disorder.
Nobuhiko Okamoto practices in Osaka, Japan. Okamoto is rated as an Elite expert by MediFind in the treatment of Bosma Arhinia Microphthalmia Syndrome. Their top areas of expertise are Bosma Arhinia Microphthalmia Syndrome, Micrognathia, Nicolaides-Baraitser Syndrome, Pancreaticoduodenectomy, and Endoscopy.
Koh-ichiro Yoshiura practices in Nagasaki, Japan. Yoshiura is rated as an Elite expert by MediFind in the treatment of Bosma Arhinia Microphthalmia Syndrome. Their top areas of expertise are Bosma Arhinia Microphthalmia Syndrome, Hydatidiform Mole, Gestational Trophoblastic Disease, Bone Marrow Aspiration, and Salpingo-Oophorectomy.
Alexandra Gurzau practices in Melbourne, Australia. Ms. Gurzau is rated as an Elite expert by MediFind in the treatment of Bosma Arhinia Microphthalmia Syndrome. Her top areas of expertise are Bosma Arhinia Microphthalmia Syndrome, Choanal Atresia, Microphthalmia, and Facioscapulohumeral Muscular Dystrophy (FSHD).
Published Date: July 01, 2017
Published By: National Institutes of Health