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.