Frias et al. (1975) reported a 6-year-old boy with a peculiar facies, characterized by downslanting palpebral fissures, epicanthic folds, hypertelorism, and ptosis. He was noted to have slightly slower psychomotor development than his unaffected sister and was reported ... Frias et al. (1975) reported a 6-year-old boy with a peculiar facies, characterized by downslanting palpebral fissures, epicanthic folds, hypertelorism, and ptosis. He was noted to have slightly slower psychomotor development than his unaffected sister and was reported to have 'low average intelligence.' His ears were cup-shaped and posteriorly rotated. Both hands were square in shape, with short stubby fingers, clinodactyly of the fifth fingers, and ulnar deviation of the index fingers. His toes were also short, and moderate hallux valgus was present. Radiographic studies revealed shortened middle phalanges of digits 2 to 5 of the hands and feet, and bone age was retarded. The patient's mother was similarly affected, with downslanting palpebral fissures, hypertelorism, ptosis, and poorly differentiated ears. Her hands were small and square, with evident brachydactyly and radial deviation of the fourth finger; her toes were small, and a moderate hallux valgus was present. X-ray showed shortened middle phalanges of digits 2 to 5 of her hands, and the middle phalanx of the second toe was short and wide. She was of average intelligence. Frias et al. (1975) suggested that this condition constituted a previously unrecognized autosomal dominant dysmorphic syndrome. Martinez-Frias et al. (2005) reported a 3-year-old girl with bilateral ptosis requiring surgical repair, mild exophthalmia, downslanting palpebral fissures, micrognathia, cup-shaped posteriorly rotated ears, bilateral postminimal postaxial polydactyly, and small, broad big toes. She had slow psychomotor development and delayed bone age. The patient's mother and maternal uncle had a similar facial appearance with bilateral ptosis requiring surgical repair, hypertelorism, mild exophthalmos, and downslanting palpebral fissures. The mother had short stature and short, square hands with small proximal syndactyly between fingers 2 and 3, and the uncle had very short hands with bowed fifth metacarpals. The proband's maternal grandmother had a similar facial appearance and hand anomalies, with ulnar deviation of the index fingers. Martinez-Frias et al. (2005) concluded that this family had the same condition as that described by Frias et al. (1975), with apparent complete penetrance and variable expressivity. Martinez-Frias et al. (2005) noted that X-linked inheritance could not be excluded.