肢端发育不良，Maroteaux 型
基因病名称(英)
Acromesomelic dysplasia, Maroteaux type
别名(英)
St. Helena dysplasia
统计
reviewed:1; annotated:0
交叉引用
602875,C0265278,C1864356,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). AMDM is characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth.
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）。AMDM 的特点是轴向骨骼受累，椎体楔入。在 AMDM 中，所有骨骼元素都存在，但显示出异常的线性生长率。