2020年4月7日 · Aarskog syndrome is basically a skeletal dysplasia and affected males develop characteristic malformations of the skeletal system including disproportionate short stature; broad, short hands and feet; short, stubby fingers (brachydactyly) with permanent fixation of the fifth fingers in a bent position (clinodactyly); abnormally extendible ...

Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome.

Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1).

Aarskog-Scott综合征也称为Aarskog综合征、阿尔珀斯氏综合征、阿-斯氏综合征、面指生殖器综合征、或面源性发育不良是一种罕见的X连锁疾病，主要影响男性，其特征是面部、骨骼和生殖器异常。

Aarskog-Scott syndrome is a genetic disorder that primarily affects development of the head and face, hands and feet, and genitals and urinary system (genitourinary tract). Explore symptoms, inheritance, genetics of this condition.

Aarskog-Scott综合征(OMIM # 305400)，也称为Aarskog综合征、面容-生殖器发育不良综合征(faciogenital dysplasia)，是以特殊面容、手指及生殖器畸形为主要特征的一种临床综合征，于1970年被Aarskog 在挪威首次报道。

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract).

A number sign (#) is used with this entry because Aarskog-Scott syndrome (AAS) can be caused by mutation in the FGD1 gene on chromosome Xp11. Aarskog-Scott syndrome with attention deficit-hyperactivity disorder and a form of syndromic X-linked intellectual developmental disorder (MRXS16) are also caused by mutation in the FGD1 gene.

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract).

Aarskog-Scott综合征也称为Aarskog综合征、面指生殖器综合征或面源性发育不良是一种罕见的X连锁疾病，主要影响男性，其特征是面部、骨骼和生殖器异常。