Aarskog-Scott syndrome

Aarskog-Scott syndrome Relevant markers:

Anteverted nostrilsBrachydactyly of fingersBroad nasal bridgeClinodactyly 5th fingerFlexion deformity of digitsHypertelorismHypospadias/tulip signLow set ear/sMidface/maxillary hypoplasiaMild pyelectasis/hydronephrosisNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPulmonary valve stenosisShawl scrotumThick corpus callosumClubfootFlat face

Parents markers:

Spine and PelvisVentricular septal defect (VSD)

Incidence:

1/100000 — 9/100000

Male — Female Ratio:

2 — 1

Involved genes:
(gene — definition — chromosome)

FGD1 gene (faciogenital dysplasia 1 gene) — Xp11.21

Inheritance mode:

AD, AR, X-linked

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

Links:

sonoworld.com

References:

1999	J Ultrasound Med	Case report	Read on PubMed
2008	Optometry	Case report and literature review	Read on PubMed