CLINICAL CHARACTERISTICS: FGD1-related faciogenital dysplasia (Aarskog-Scott syndrome) is characterized by distinctive craniofacial features (including broad forehead, widow’s peak and/or frontal upsweep, hypertelorism, ptosis, short nose with a broad nasal bridge and anteverted nares, wide mouth, and rectangular thickening of the ear lobes), short stature, skeletal anomalies (including short/broad hands, brachydactyly, camptodactyly, “swan neck” finger deformities, prominent interphalangeal…
