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
Aarskog–Scott syndrome
Hajdu–Cheney syndrome
Dennie–Marfan syndrome
Witteveen–Kolk syndrome
MEDNIK syndrome
Flynn–Aird syndrome
CAMFAK syndrome
McKittrick-Wheelock syndrome