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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-01-2011
Symbol TPBS
Location 15q26.3
Name Temtamy preaxial brachydactyly syndrome
Corresponding gene CHSY1
Main clinical features
  • limb malformations, short stature, and hearing loss
  • mild facial dysmorphism, including round face and craniosynostosis, mild hypertelorism, and micrognathia, short and abducted thumbs, short and deviated halluces, and syndactyly
  • with growth retardation, kyphoscoliosis, and pectus excavatum and moderate to profound sensorineural hearing loss in almost 80p100 of the cases
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type malformation