lymphedema-posterior choanal atresia syndrome

Lymphedema-posterior choanal atresia syndrome

Lymphedema-posterior choanal atresia syndrome is a rare genetic disorder characterized by the early-onset appearance of lymphedemas and congenital choanal atresia, which might be accompanied by other features such as pectus excavatum, hypoplasia of the nipples, and facial dysmorphisms such as hypertelorism, frontal bossing, etc. Only 7 cases from Yemen and Iran have been described in the medical literature. This condition is caused by homozygous mutations in the PTPN14 gene, located in chromosome 1.