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GENATLAS PHENOTYPE
last update : 30/09/2005
Symbol TRPS3
Location 8q24.11
Name trichorhinophalangeal syndrome, type 3
Other name(s) Sugio-Kajii syndrome
Corresponding gene TRPS1
Main clinical features
  • severe short stature and severe brachydactyly due to short metacarpals
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name trichorhinophalangeal syndrome 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     altering the GATA DNA-binding zinc finger domain
    Genotype/Phenotype correlations three subtypes of tricho-rhino-phalangeal syndrome have been described: TRPS1, TRPS2, a microdeletion syndrome affecting the TRPS1 and EXT1 genes and TRPS3 with severe brachydactyly and short stature