The characterization of the spatiotemporal pattern of FGD1 expression in mouse embryos has provided important clues to the understanding of the pathogenesis of Aarskog–Scott syndrome.It appears likely that the primary defect in Aarskog–Scott syndrome is an abnormality of FGD1/Cdc42 signaling resulting in anomalous embryonic development and abnormal endochondral and intramembranous bone formation. Diagnosis
Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition, as there are overlapping features with fetal alcohol syndrome.Other examinations or tests can help with diagnosis. These can include:

detailed family history
conducting a detailed physical examination to document morphological features
testing for genetic defect in FGDY1
x-rays can identify skeletal abnormalities
echo cardiogram can screen for heart abnormalities
CT scan of the brain for cystic development
X-ray of the teeth
Ultrasound of abdomen to identify undescended testis

Treatment
Similar to all genetic diseases Aarskog–Scott syndrome cannot be cured, although numerous treatments exist to increase the quality of life.Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Trials of growth hormone have been effective to treat short stature in this disorder. Prognosis
Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility. History
The syndrome is named for Dagfinn Aarskog, a Norwegian pediatrician and human geneticist who first described it in 1970, and for Charles I. Scott, Jr., an American medical geneticist who independently described the syndrome in 1971. References
Jones, Kenneth Lyons (2005).
Smiths Recognizable Patterns of Human Malformation (6th ed.). Philadelphia: WB Saunders. ISBN 978-0-7216-2359-7. Orrico A.; Galli L.; Cavaliere ML. ;  et al. (2004). "Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients". Eur. J. Hum. Genet. 12 (1): 16–23. doi:10.1038/sj.ejhg.5201081. PMID 14560308. External links
Aarskog–Scott syndrome, detailed up-to-date information in OMIM (Online Mendelian Inheritance in Man)
Aarskogs syndrome at Who Named It?