Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-04-2009
Symbol TNTP1
Location 4p16.3
Name thanatophoric dysplasia, type 1
Other name(s)
  • thanatophoric dysplasia
  • thanatophoric dwarfism
    • Corresponding gene FGFR3
    Other symbol(s) TD, TD1
    Main clinical features
  • lethal dwarfism with long trunck, micromelic dwarfism with ribs and bones of the extremities very short, vertebral bodies greatly reduced in height with wide intervertebral spaces, but caudal narrowing of the spinal canal not present, radiologically, the vertebral bodies are H-shaped in frontal projection, the femurs are shaped like telephone receivers
    • Genetic determination autosomal dominant
    Related entries including San Diego skeletal dysplasia (OMIM 270230)
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name fibroblast growth factor receptor 3 (FGFR3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function induce graded levels of constitutive activation of the receptor corresponding to the severity of the disorder, resulting in premature entry into hypertrophic differentiation and reduced proliferation of chondrocytes in developing cartilage R248C,S371C,S249C,Y373C,X807,X807C
    Remark(s) . premature synchondrosis closure in the spine and cranial base in human cases of homozygous thanatophoric dysplasia (Matsushita 2009)