Descartes et al. (2009) reported a brother and sister with Stargardt macular degeneration (see STGD; 248200), mental retardation, and dysmorphic features. Facial features included flared eyebrows, upslanted palpebral fissures, prominent ear lobules, broad nasal tip, overcrowded teeth, high-arched ... Descartes et al. (2009) reported a brother and sister with Stargardt macular degeneration (see STGD; 248200), mental retardation, and dysmorphic features. Facial features included flared eyebrows, upslanted palpebral fissures, prominent ear lobules, broad nasal tip, overcrowded teeth, high-arched palate, simple philtrum, broad face with full cheeks, and pointed chin with dimple. They both developed macular degeneration at 7 years of age. The brother had agenesis of the corpus callosum, and his sister had hypoplasia of the corpus callosum. Both had sensorineural hearing loss requiring hearing aids. The brother had a 47,XYY karyotype; that of the sister was normal.