Cyprus面部-神经肌肉骨骼综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further descriptions in the literature since 1992.

基本事实

遗传方式

常染色体显性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接