过度生长-干骺端发育不良-脊柱发育不良综合征

定义 英文原文（暂无中文）

A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接