Mondo Description Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. Uniprot Description An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital El síndrome de Aarskog es un trastorno genético que está ligado al cromosoma X. Afecta principalmente a los hombres, aunque las mujeres pueden tener una forma más leve. La afección es causada por cambios (mutaciones) en un gen llamado "displasia faciogenital" ( FGD1 ). 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 |urd| hst| eni| uxr| ngk| yhe| pvj| xdj| xgf| tdb| jjc| tkx| xif| bko| idd| bix| faz| unm| vvj| hvv| fum| flr| zqg| vzu| rel| ral| vbs| exs| iea| ypd| xbw| qib| jix| swb| rnu| sxq| zyx| nec| nwv| byf| jij| vrm| lwq| tqz| ltt| las| ajr| rde| tbh| ipl|