多发性骨骺发育不良  multiple epiphyseal dysplasia

脊柱骨骺发育不良  spondylo-epiphyseal dysplasia

先天性发育不良  congenital abnormality; congenital hypoplasia

X-连锁迟发性脊椎骨骺发育不良  X-linked spondyloepiphyseal dysplasia tarda

迟发性脊椎骨骺发育不良  X-linked spondyloepiphyseal dysplasia tarda; spondyloepiphyseal dysplasia tarda

迟发性脊椎骨骺发育不良基因  spondyloepiphyseal dysplasia tarda gene

半肢畸形骨骺发育不良  tarsoepiphyseal aclasis

多发性先天性外生骨疣  Multiple congenital exostoses

角化不良，先天性  Dyskeratosis congenita

先天性发育异常NOS  Congenital malformation unspecified

先天性脊柱变形  Congenital deformity of spine

先天性脊柱侧后凸  Congenital latero-kyphosis; Congenital kyphoscoliosis

先天性脊柱侧凸  congenital porphyria; congenital scoliosis

先天性脊柱侧弯  congenital scoliosis

先天性脊柱后凸  congenital kyphosis

先天性脊柱畸形  Congenital deformities of spine; Congenital kyphoscoliosis

原发性先天性青光眼  Primary congenital glaucoma; Primary congenital glaucoma PCG

多囊性发育不良肾臓  multicystic dysplastic kidney

多样性骨发育不全  dysostosis multiplex