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

July 2025 in “ Clinical Case Reports ”

E Cailing, Mohammad Boshir Ahmed, Yu Wang, Jing Wang, Shixing Wu, Zhiqi Meng

Trichorhinophalangeal Syndrome TRPS1 gene sparse hair

Studysummary In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

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TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

9 citations , April 2020 in “Journal of dermatology”

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.