に定義されています ユニスのVaron症候群

Yunis-Varon syndrome (YVS) is an extremely rare congenital genetic multisystem disorder which affects the skeletal, ectodermal tissuee and cardiorespiratory systems. よりたくさんの

Yunis-Varon syndrome (YVS) is an extremely rare congenital genetic multisystem disorder which affects the skeletal, ectodermal tissuee and cardiorespiratory systems. Symptoms include growth retardation before and after birth, defective growth of the bones of the skull along with complete or partial absence of the shoulder blades and characteristic facial features. Additional symptoms may include abnormalities of the fingers and/or toes. In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects. This syndrome is inherited as an autosomal recessive trait. The disease has been described relatively recently in the 1980's and since then less than 15 cases have been reported around the world. Many of the infants did not survive beyond one year of age. less