Developmental abnormalities
Thanatophoric dwarfism

Author: Dariusz Borys, M.D. (see Authors page)

Revised: 14 September 2016, last major update June 2012

Copyright: (c) 2003-2016,, Inc.

PubMed Search: Thanatophoric dwarfism
Cite this page: Thanatophoric dwarfism. website. Accessed December 15th, 2018.
Definition / general
  • Also called thanatophoric dysplasia
  • “Thanato”: denoting death
  • Lethal form of dwarfism
  • Occurs in 1 per 20,000 live births

    Type II:
  • Straighter femur with cloverleaf skull
  • Mutation in FGFR3 gene, but different from that in achondroplastic dwarfism

  • Micromelia (short limbs)
  • Frontal bossing with relative macrocephaly (abnormally large and hyperconvoluted temporal lobes)
  • Small chest
  • Bell shaped abdomen
  • Die at birth or shortly thereafter from respiratory insufficiency due to small thoracic cavity
Case reports
Microscopic (histologic) description
  • Diminished proliferation of chondrocytes and poor columnization of zone of proliferation