trichorhinophalangeal

Definitions

Relating to the hair, nose, and phalanges (finger or toe bones); applied to Langer-Giedion syndrome.

not-comparable

Examples

“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).”

CEFR level