Diaphragmatic Hernias Clinical Presentation

Updated: Nov 19, 2021
  • Author: Nicola Lewis, MBBS, FRCS, FRCS(Paed Surg); Chief Editor: Eugene S Kim, MD, FACS, FAAP  more...
  • Print

History and Physical Examination


The diagnosis of congenital diaphragmatic hernia (CDH) is frequently made antenatally prior to 25 weeks' gestation. CDH is usually detected in the antenatal period (46-97%), depending on the use of level II ultrasonography (US) techniques (see Workup).


History and clinical findings vary with the presence of associated anomalies and the degree of pulmonary hypoplasia and visceral herniation. In the infant presenting in the neonatal period without antenatal diagnosis, variable respiratory distress and cyanosis, feeding intolerance, and tachycardia are noted. In the physical examination, the abdomen is scaphoid if significant visceral herniation is present (see the image below). Upon auscultation, breath sounds are diminished, bowel sounds may be heard in the chest, and heart sounds are distant or displaced.

Photograph of a one-day-old infant with congenital Photograph of a one-day-old infant with congenital diaphragmatic hernia. Note the scaphoid abdomen. This occurs if significant visceral herniation into the chest is present.

Late presentation

Patients may present outside of the neonatal period with respiratory symptoms, intestinal obstruction, bowel ischemia, and necrosis following volvulus.



Associated anomalies are present in 10-50% of patients with CDH; patients with these anomalies have a twofold relative risk of mortality when compared with patients with isolated CDHs. [21] Frequently associated anomalies include cardiac defects, chromosomal anomalies (ie. trisomies 21, 18, and 13), renal anomalies, genital anomalies, and neural tube defects.