Genetic conditions associated with Pectus

By | June 23, 2015

Pectus Excavatum Genetics

Pectus Excavatum can occur as an idiopathic condition (present with an unknown cause) or with an associated genetic anomaly. Here is a fairly comprehensive list of known genetic conditions that may be associated with Pectus Excavatum.

  • Marfan Disease
  • Ehlers Danlos
  • Osteogenesis Imperfecta Type I, III, and IV
  • Cardiofacial Cutaneous Syndrome
  • Morquio Syndrome
  • Prune Belly Syndrome
  • Noonan Syndrome
  • Mitral Valve Stenosis or Prolapse
  • Hand Agenesis
  • Polan Anomaly
  • Moebius Anomaly
  • Holt-Oram Syndrome
  • Pentalogy of Cantrell
  • Loeyz-Dietz
  • PHACE

The causes of Pectus Excavatum are still unclear, although a familial predisposition has been observed and nearly half of the patients have relatives with various skeletal alterations, a direct genetic link has not yet been recognized (Toccioni, 2013). In other words, there is not a specific isolated identified genetic cause of Pectus Excavatum itself.