Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Various dysmorphic facial features have been reported (summary by ... Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010).
Temple and Baraitser (1991) reported a 3.5-year-old boy, born of nonconsanguineous Iranian parents, with a severe mental retardation syndrome characterized by hypotonia, seizures, and generalized cerebral atrophy. He had a low frontal hairline with central cowlick, mild hypertelorism, ... Temple and Baraitser (1991) reported a 3.5-year-old boy, born of nonconsanguineous Iranian parents, with a severe mental retardation syndrome characterized by hypotonia, seizures, and generalized cerebral atrophy. He had a low frontal hairline with central cowlick, mild hypertelorism, ptosis, and a prominent nose. Skeletal features included small hypoplastic thumb nails and absent great toe nails. Radiographs showed central lucent areas in the distal phalanges of both thumbs resembling pseudoepiphyses. The terminal phalanges of other digits on both hands and feet were hypoplastic. Gabbett et al. (2008) reported a 4-year-old boy with a similar phenotype to that reported by Temple and Baraitser (1991). He had marked hypotonia, global developmental delay, and seizures. Other features included myopathic facies with flat forehead, broad depressed nasal bridge, epicanthal folds, short columella, long philtrum, broad mouth with downturned corners, and high-arched palate. Both thumbs were terminally broad with hypoplasia of the nail. The halluces were long and broad with nail aplasia bilaterally. Radiographs showed pseudoepiphyses of the thumbs and hypoplasia of all other terminal phalanges. Gabbett et al. (2008) noted that the patient's mother had a seizure disorder and took carbamazepine during pregnancy, which may have accounted for some of the facial dysmorphism. Both Temple and Baraitser (1991) and Gabbett et al. (2008) noted some phenotypic similarities to DOOR syndrome (220500), but neither patient had deafness. Jacquinet et al. (2010) reported 2 unrelated girls with a phenotype consistent with Temple-Baraitser syndrome. One was born of unrelated Algerian parents and the other of unrelated Chinese parents. The first girl had neonatal hypotonia, mental retardation, and generalized tonic-clonic seizures. Facial dysmorphism included hypertelorism, broad nasal bridge, long philtrum, and a wide mouth with thick vermilion border of the upper lip and downturned corners. Her thumbs were long and proximally set, with hypoplastic thenar eminences and hypoplastic thumb nails. The other distal phalanges were short with normal nails. The halluces were long and tubular, with short distal phalanges and severely hypoplastic nails. Radiographs of the hands and feet showed segmentation in the distal phalanges of the thumbs and the left great toe, giving the appearance of pseudoepiphyses. Proximal epiphyseal ossification centers were missing in the distal phalanges of the first rays. The second child had bilateral anonychia of both halluces, hypoplastic nails of both thumbs, and hypoplastic terminal phalanges with slightly hypoplastic nails on the other fingers. She had hypotonia, poor visual contact, and delayed development. Facial dysmorphic features were mild, with a wide open mouth, thick vermilion border of the upper lip, and downturned corners of the mouth. Array CGH analysis of these 2 patients and the patient reported by Gabbett et al. (2008) did not reveal any abnormalities. Jacquinet et al. (2010) favored sporadic occurrence of the disorder.