肢端软骨发育不良，Grebe 型
基因病名称(英)
Acromesomelic chondrodysplasia, Grebe type
统计
reviewed:1; annotated:0
交叉引用
200700,C0265260,D004392
描述(英)
An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.
描述
一种常染色体隐性遗传的顶体软骨发育不良。肢端软骨发育不良是一种罕见的遗传性骨骼疾病，其特征是身材矮小、四肢非常短和手/足畸形。肢体异常的严重程度从近端到远端增加，严重受影响的手和脚显示短指和/或残缺的手指（旋钮状手指）。AMDG 的特征是正常的轴向骨骼和手脚内缺失或融合的骨骼元素。