Developmental delay with or without dysmorphic facies and autism (DEDDFA) can be classified in two groups or spectra. Individuals in the first group present with malformations of the heart, kidneys, and genitourinary system. Microcephaly (small head), feeding difficulties, cleft lip and palate, and anomalies of the nails are common in this group. The second group is characterized by autism spectrum disorder and seizures. Both groups present with global developmental delay (delay in learning skills compared to other children) and intellectual disability. Facial dysmorphism (abnormal differences in face structure) are common to both groups.
TRRAP