TRPS1 and trichorhinophalangeal syndrome type I: Heterozygous germline mutations in TRPS1 on chromosome 8q23 in humans result in autosomal dominant inheritance of trichorhinophalangeal syndrome types I and III (TRPS1 I, OMIM 190350; TRPS III, OMIM 190351) [8], [9], which are characterized by sparse and slow-growing scalp hair, as well as craniofacial and skeletal abnormalities [10].