Aarskog–Scott syndrome

Also known as: Faciogenital dysplasia

X-linked short stature syndrome with hypertelorism and shawl scrotum.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: carriers mildly affected; Children: yes
Gene(s) involved: FGD1

Etiology & mechanism

FGD1 variants disrupt Cdc42 signaling.

Gene(s) involved (1)

FGD1

Symptoms & signs (7)

brachydactylycryptorchidismdelayed pubertyhypertelorismjoint laxityshawl scrotumshort stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.