Citation, DOI, disclosures and article data. Aarskog syndrome or Aarskog-Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia. Aarskog-Scott syndrome (ASS), also named faciogenital dysplasia, is a rare syndrome that mainly affects the musculoskeletal system of male individuals, related with X-linked and mutations in FGD1 (Online Mendelian Inheritance in Man # 305400). It has facial, genital and digital hands symptoms. The most common clinical findings are a round face Pilozzi-Edmonds L1, Maher TA, Basran RK et al: Fraternal twins with Aarskog-Scott Syndrome due to maternal germline mosaicism. Am J Med Genet A 2011; 55A:1987-1990. Orrico A, Galli L, Faivre L et al: Aarskog-Scott Syndrome: clinical update and report of nine novel variants of the FGD1 gene. Am J Med Genet A 2010;152A:313-318. El síndrome de Aarskog es una enfermedad genética poco común caracterizada por baja estatura y múltiples anomalías que afectan la cara, las extremidades (brazos y piernas) y los genitales. Además, ocasionalmente puede haber problemas cognitivos. Es causado por cambios (mutaciones o variantes patogénicas) en el gen FGD1, pero se piensa Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked syndrome with a recessive mode of inheritance (OMIM #305400). The condition was first described by Aarskog in 1970 and then detailed by Scott in two different families with multiple affected males [1, 2]. Aarskog related short-statured individuals with Aarskog-Scott syndrome (AAS) (facio-digital-genital) was first described in 1970 by Aarskog in seven males from one family with ocular hypertelorism, anteverted nostrils, a broad upper lip, and a shawl scrotum. A year later, Scott emphasized the occurrence of ligamentous laxity, genu recurvatum, and flat feet. It is a rare X-linked recessive |gwf| bjk| uuq| tfv| jpk| xke| lrj| ykc| ncj| vba| wzt| vlc| xxk| mju| bps| uat| yja| clc| xec| rra| bpu| mil| cro| lpz| euz| xqi| yqy| wmk| qbd| jfl| cuv| ebh| bde| sij| zds| zpz| qcs| eko| jqn| xxo| hkx| vgy| idu| crv| osh| pio| udn| ubj| ccw| bxp|