trichorhinophalangeal

English

Etymology

From tricho- +‎ rhino- +‎ phalangeal.

Adjective

trichorhinophalangeal (not comparable)

1. (anatomy) Relating to the hair, nose, and phalanges (finger or toe bones); applied to Langer-Giedion syndrome.
   • 1969, Daniel Bergsma, The First Conference on the Clinical Delineation of Birth Defects: Special lectures, March of Dimes:

     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 […]

   • 2015 September 19, “Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders”, in PLOS ONE‎^[1], →DOI:

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

   • 2015, Ross E Petty, Textbook of Pediatric Rheumatology‎^[2]:

     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).