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GENATLAS PHENOTYPE
last update : 05-10-2011
Symbol TRPS2
Location 8q24.11-q24.13
Name trichorhinophalangeal syndrome, type II
Other name(s) Langer-Giedion syndrome
Corresponding gene TRPS1 , EXT1
Other symbol(s) LGS, DEL8Q24
Main clinical features
  • sparce scalp hair, bushy eyebrows, bulbous nose, long philtrum, short stature, cone-shaped epiphyses, multiple cartilagineous exostoses and mental retardation
  • bilateral tibial hemimelia was reported in 3 cases (OMIM : 275220, PMID: 21948702))
  • Genetic determination chromosomal
    Function/system disorder osteo-articular
    multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency microdeletion including TRPS and EXT genes, occuring usually de novo
      other haploinsufficiency complex chromosomal rerrangements are observed in some cases
      deletion   some 8q24 microdeletions include EXT1 but not TRPS1
    Remark(s)
    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