tricho-rhino-phalangeal syndrome type 1

(redirected from TRPS1)
Also found in: Acronyms, Wikipedia.

tricho-rhino-phalangeal syndrome type 1

An autosomal dominant condition (OMIM:190350), which is allelic with TRPS type 3, characterised by:
• Craniofacial defects—sparse scalp hair, a bulbous tip nose, protruding ears, a long flat philtrum and thin upper vermilion border; and
• Skeletal defects—cone-shaped epiphyses at phalanges, hip malformations and short stature.

Molecular pathology
Defects of TRPS1, which encodes a transcription factor that downregulates GATA-regulated genes, cause tricho-rhino-phalangeal syndrome type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Fadoju, "A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature," International Journal of Pediatric Endocrinology, vol.
Adai et al., "TRPS1 targeting by miR-221/222 promotes the epithelial-to-mesenchymal transition in breast cancer," Science Signaling, vol.
The condition is caused by mutations in the TRPS1 gene.