tricho-rhino-phalangeal syndrome type 3

tricho-rhino-phalangeal syndrome type 3

An autosomal dominant condition (OMIM:190351), which is allelic with TRPS type 1, 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, short stature, with more severe brachydactyly and growth retardation.

Molecular pathology
Defects of TRPS1, which encodes a transcription factor that downregulates GATA-regulated genes, cause tricho-rhino-phalangeal syndrome type 3.