Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.

Trichorhinophalangeal syndrome (TRPS) is a very rare genetic disorder comprised of three recognised types, all characterised by short, deformed fingers with cone-shaped epiphyses (CSE) visible on radiographs. TRPS type I is the most common subtype. We report the case of a girl in her mid-teens who presented with the characteristic clinical and radiological features of TRPS type I. The diagnosis was confirmed by whole-exome sequencing, which identified a novel heterozygous variant in the TRPS1 gene. This case highlights a structured diagnostic approach to CSE and may further expand the mutational spectrum of TRPS type I.