Clinical Characteristics

Developmental delay with or without dysmorphic facies and autism (DEDDFA) can be classified in two spectra. Individuals within the first spectrum present with malformations of the brain (cerebellar hypoplasia and cerebral abnormalities), heart, kidneys, and genitourinary system. Microcephaly, feeding difficulties, cleft lip and palate, and dysplastic nails are common in this group. The second spectrum is characterized by autism spectrum disorder and seizures. Both spectra present with global developmental delay and intellectual disability. Facial dysmorphism such as upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip are common to both spectra.