Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology

Ann N Y Acad Sci. 2017 Dec;1409(1):67-78. doi: 10.1111/nyas.13440. Epub 2017 Oct 9.


Postaxial limb hypoplasia (PALH) is a group of nonhereditary diseases with congenital lower limb deficiency affecting the fibular ray, including fibular hemimelia, proximal femoral focal deficiency, and tarsal coalition. The etiology and the developmental biology of the anomaly are still not fully understood. Here, we review the previous classification systems, present the clinical features, and discuss the developmental biology of PALH.

Keywords: Wnt signaling; fibular hemimelia; postaxial hypoplasia; proximal femoral focal deficiency; skeletal development; tarsal coalition.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Ectromelia / embryology
  • Ectromelia / genetics
  • Ectromelia / pathology
  • Fibula / abnormalities
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Limb Deformities, Congenital / classification
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / pathology*
  • Musculoskeletal Development / genetics
  • Mutation*
  • Signal Transduction / genetics