Distal arthrogryposis (DA) is a heterogeneous group of disorders with congenital, nonprogressive contractures affecting the joints of distal extremities. About 13 distinct subtypes have been defined based on phenotypic features and the different genes known to be causative typically encode for sarcomeric proteins of the contractile apparatus. Although most subtypes are inherited in autosomal dominant manner, distal arthrogryposis type 5D (DA5D) is the only type inherited as an autosomal recessive disorder with a prevalence of <1/1 000 000. We are reporting the phenotype of three members of a family affected by DA5D caused by a novel deletion in the ECEL1 gene. All of them exhibited the distal arthogryposis involving hands and feet, scoliosis, unilateral drooping shoulder, ptosis, central furrow over tip of the tongue and typical facial features.

中文翻译：

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由ECEL1基因的新缺失引起的南印度家庭远距关节型5D型。

关节远端畸形（DA）是一组异质性疾病，伴有先天性，非进行性挛缩，影响远端肢体的关节。基于表型特征已经定义了约13个不同的亚型，已知的致病基因通常编码可收缩装置的肌节蛋白。尽管大多数亚型以常染色体显性遗传方式遗传，但远侧关节型金龟病5D型（DA5D）是唯一因常染色体隐性遗传病而遗传的类型，其患病率＜1/1 000000。我们正在报告受影响家庭的三个成员的表型由ECEL1基因的新型缺失引起的DA5D引起的。他们都表现出远端手足关节病，包括手脚，脊柱侧弯，单侧下垂的肩膀，上睑下垂，舌尖中央沟和典型的面部特征。