Gripp et al. (1996) described 2 unrelated patients, a girl and a boy, with a seemingly previously unrecognized syndrome: congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation. The parents were nonconsanguineous ... Gripp et al. (1996) described 2 unrelated patients, a girl and a boy, with a seemingly previously unrecognized syndrome: congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation. The parents were nonconsanguineous in each case. The appearance of the eyes was somewhat suggestive of Down syndrome. The philtrum was long, broad, and smooth and the face was generally flat. One of the patients had bilateral radioulnar synostosis; the other had idiopathic chondrolysis. The high-resolution karyotypes of the 2 patients were 46,XX and 46,XY, respectively. In the male patient, the authors found no microdeletions associated with either Smith-Magenis syndrome (182290) or Xp22.3. Keppler-Noreuil et al. (2007) reported 2 unrelated patients with a clinical phenotype most closely resembling that reported by Gripp et al. (1996). Common features included facial dysmorphism suggestive of Down syndrome, including flat nasal bridge, slanted palpebral fissures, epicanthal folds, low-set ears, and tented upper lip/thin vermilion border. Both patients had short stature, congenital cataracts, hearing loss, and delayed mental development. Microarray analysis in the first patient revealed a subtelomeric 1.0- to 1.9-Mb deletion of chromosome 11q25; the same deletion was also found in the patient's mother, who had short stature, mild facial dysmorphism, and mild mental retardation (IQ of 70), but no cataracts or hearing loss. The phenotype was distinct from that seen in Jacobsen syndrome (147791). Microarray analysis was normal in the second patient. Keppler-Noreuil et al. (2007) postulated that patients with this novel syndrome may have a microdeletion of the chromosome 11q terminal region or haploinsufficiency of a gene within this region.