Trichorhinophalangeal

Doctor Giedeon described several children with what he called the trichorhinophalangeal syndrome because they had involvement of hair, which was sparse and thin and did not grow well, because they had involvement of their phalanges with peculiar cone-shaped epiphyses, and because they had in common a physiognomy characterized by what he called a pear-shaped nose […]

In the case of the trichorhinophalangeal syndrome, gene deletions can cause the disease, which may not be detected by analysis of the panel.

Trichorhinophalangeal syndrome type 1 and the more severe type 3 are autosomal dominant disorders (OMIM #190350 and #190351), arising from mutation of a putative transcription factor (TRPS1).