肢端发育不良，Demirhan 型
基因病名称(英)
Acromesomelic dysplasia, Demirhan type
别名(英)
Acromesomelic chondrodysplasia, with genital anomalies,Chondrodysplasia, acromesomelic, with or without genital anomalies
统计
reviewed:1; annotated:0
交叉引用
609441,C1836182,D004392,D010009
描述(英)
A form of 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). AMDD inheritance is autosomal recessive.
描述
软骨发育不良的一种形式。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）。AMDD 遗传是常染色体隐性遗传。