tricho-rhino-phalangeal syndrome type 1

(redirected from TRPS)
Also found in: Acronyms.

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.
References in periodicals archive ?
TRPS type 1 is an autosomal dominant disorder characterized by craniofacial and bony abnormalities that include sparse, slow-growing hair and thin lateral eyebrows, a pear-shaped nose, elongated philtrum and thin upper lip, prominent ears, and cone-shaped epiphyses of the phalanges.
Although there is no specific treatment for TRPS type 1, the parents were happy to better understand their daughter's condition.
TRPS is an initiative by the Department of Income Tax, Government of India to increase awareness of tax laws through larger community participation, with NIIT being mandated to train and certify Tax Return Preparers (TRPs) across the country.