# A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

## TL;DR

A 17-year-old male with a new mutation in the TRPS1 gene shows symptoms of Trichorhinophalangeal Syndrome, including physical abnormalities.

## Contribution

A novel heterozygous nonsense mutation in the TRPS1 gene is identified as the cause of Trichorhinophalangeal Syndrome in this patient.

## Key findings

- The patient exhibits sparse hair, short thumbs and toes, and dental misalignment.
- X-rays reveal skeletal abnormalities in the fingers and toes consistent with TRPS1 mutation.
- The c.2065C>T mutation in TRPS1 is a novel cause of Trichorhinophalangeal Syndrome.

## Abstract

A 17‐year‐old male patient with a c.2065C>T heterozygous nonsense mutation in the TRPS1 gene has sparse, soft hair; short thumbs and toes; misaligned teeth; and X‐ray findings of short distal thumb phalanges, depressed middle finger phalanges bases, and short toe proximal phalanges.