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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 12/09/2008
Symbol TRPS1
Location 8q24.11
Name trichorhinophalangeal syndrome, type I
Corresponding gene TRPS1
Main clinical features
  • characterized by sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears
  • associated with skeletal anomalies including cone-shaped epiphyses at the phalanges, hip malformation and short stature
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    congenital malformation
    Type malformation
    Gene mutationChromosome rearrangementEffectComments
    various types      
    Remark(s) skeletal dysplasia is caused by dysregulation of chondrocyte and perichondrium development partially due to loss of TRPS1 repression of RUNX2
    Genotype/Phenotype correlations three subtypes of tricho-rhino-phalangeal syndrome have been dscribed: TRPS1, TRPS2, a microdeletion syndrome affecting the TRPS1 and EXT1 genes and TRPS3 with severe brachydactyly and short stature