ホルト・オラム症候群 Berk-Tabatznik 症候群 心臓-手症候群, Slovenian 型 長母指・短指症候群
概要
Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. HHS includes the most common type HHS of Holt-Oram syndrome (HOS) and several rare types. TBX5 and LMNA are the only two genes found to contribute to HHS, causing HOS and HHS Slovenian type (HHS-S), respectively.
