Patients with SOS1-related NS display typical facial features, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows with keratosis pylaris, curly hair a short and broad nose with upturned tip, low-set and posteriorly angulated ears, and high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges. The gene discussed is SOS1; the disease is keratosis.