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).
Radiation retinopathy is damage to retina due to exposure to ionizing radiation. Radiation retinopathy has a delayed onset, typically after months or years of radiation, and is slowly progressive. In general, radiation retinopathy is seen around 18 months after treatment with external-beam radiation and with brachytherapy. The time of onset of radiation retinopathy is between 6 months to 3 years.An exposure to doses of 30-35 grays (Gy) or more is usually required to induce clinical symptoms, however, retinopathy may develop after as little as 15 Gy of external-beam radiation. A reported safe dose is 30 Gy (3,000 rad): 10 Gy (1,000 rad) per week in five fractions of 2 Gy (200 rad). Signs and symptoms
Clinically, affected people may not have symptoms or may complain of decreased visual acuity. Ophthalmic examination may reveal signs of retinal vascular disease, including cotton-wool spots, retinal bleeds, microaneurysms, perivascular sheathing, capillary telangiectasis, macular edema, and disc edema. Capillary non perfusion, documented by fluorescein angiography, is commonly present, and extensive retinal ischemia can lead to neovascularization of the retina, iris, and disc. Staging of radiation retinopathy has been proposed. Pathophysiology
Radiation retinopathy is very similar to other vascular diseases. Diabetes and radiation primarily damage the retinal capillaries. Diabetes results in early loss of pericytes and thickening of the basement membrane. Radiation however, damages the endothelial cells. Diagnosis
Treatment
The management of radiation retinopathy is similar to that for diabetic retinopathy and includes focal laser therapy to reduce macular edema or panretinal photocoagulation to treat zones of ischemia and neovascularization.