tricho-rhino-phalangeal syndrome type 1
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.