TRICHORHINOPHALANGEAL SYNDROME OMIM

Description: TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Alternative titles; symbols LANGER-GIEDION SYNDROME; LGS Gene map locus 8q24.11-q24.13 TEXT A number sign (#) is used with this entry because trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a contiguous gene syndrome involving loss of functional copies of the TRPS1 (604386) and EXT1 (608177) genes. TRPS type II combines the clinical features of trichorhinophalangeal syndrome type I (190350) and multiple exostoses type I (133700), which are caused by mutations in the TRPS1 and EXT1 genes, respectively. CLINICAL FEATURES Hall et al. (1974) described a condition that they called the Langer-Giedion syndrome in which affected individuals had multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Kozlowski et al. (1977) reported 2 unrelated patients, a girl and a boy, and suggested that the condition may have been described by Ale and Calo (1961). Murachi et al. (1981) described affected father and daughter, suggesting autosomal dominant inheritance. The father was mildly mentally retarded. They noted previous reports of 9 cases, all sporadic