Endocrinology · Endocrinology / Pediatric endocrinology
Aarskog–Scott syndrome
also: Faciogenital dysplasia
X-linked short stature syndrome with hypertelorism and shawl scrotum.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: carriers mildly affected; Children: yes
- Gene(s) involved
- FGD1
- Alternative names & eponyms
- Faciogenital dysplasia
Etiology & mechanism
FGD1 variants disrupt Cdc42 signaling.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Aarskog–Scott syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Noonan syndrome
cryptorchidism, hypertelorism, short stature
2 shared
LEOPARD syndrome
hypertelorism, short stature
2 shared
Loeys–Dietz syndrome
hypertelorism, joint laxity
2 shared
Mauriac syndrome
delayed puberty, short stature
2 shared
Peters plus syndrome
brachydactyly, short stature
2 shared
Pituitary stalk interruption syndrome
delayed puberty, short stature
2 shared
Weill–Marchesani syndrome
brachydactyly, short stature
1 shared
3M syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Arterial tortuosity syndrome
joint laxity
Shares genes with
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