Aarskog-Scott syndrome (AAS; or Faciogenital dysplasia) is an X linked recessive disorder characterised by hypertelorism, short nose, brachydactyly, fifth finger clinodactyly, short stature, and genitourinary abnormalities (shawl scrotum, cryptorchidism). Secondary features, which are variable, include broad forehead, widow’s peak, ptosis, downward slanting palpebral fissures, broad feet, abnormal auricles and umbilical hernia. Affected males may have developmental delay and neurobehavioural features in attention deficit hyperactivity disorder (ADHD) spectrum. Carrier females may present with short stature and widow’s peak (Orrico et al. 2010 Am J Med Genet 152A:313-318).

AAS is caused by variants in the FGD1 gene (Pasteris et al. 1994 Cell 79:669-678; Orrico et al. 2000 FEBS Lett 478:216-220; Orrico et al. 2010 Am J Med Genet 152A:313-318). Disease-causing variants have been identified in 18% (11/60) of probands of European ancestry (Orrico et al. 2010 Am J Med Genet 152A:313-318).  A partial gene deletion (Schwartz et al. 2000 Eur J Hum Genet 8:869-74), a whole gene deletion (Bedoyan et al. 2009 Eur J Med Genet 52:262-4) and a partial gene duplication (Ronce et al. 2011 Clin Genet) have been reported in FGD1.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.