Trichorhinophalangeal syndrome, type I

We describe a patient with trichorhinophalangeal syndrome type I (TRPS-I) who had been previously diagnosed as having anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip, and a horizontal groove on the chin. There may be clinobrachydactyly with ulnar deviation and dystrophic nails. The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12. Patients with all variants of TRPS need prompt and accurate assessment because musculoskeletal dysplasia is a universal feature in this syndrome. We review TRPS and similar syndromes to assist the accurate diagnosis of these lifelong maladies.