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Congenital diaphragmal hernia (CDH)

The congenital diaphragmal hernia (CDH) arises through a missing or weak diaphragm musculature. Thereby the contents of the abdominal cavity protrudes into the thoracic space and displaces the structures there.

Fig. 28 - Congenital diaphragmal hernia

Fig. 28

On the left side of the child (right in the image) the intestinal loops are visible in the thorax region and have displaced the heart and the other mediastinal structures to the right.


An omphalocele is a displacement of abdominal contents into the umbilical cord. In contrast to an umbilical hernia an omphalocele is only covered with the peritoneum. The cause is an improper retraction of the physiologic umbilical hernia in the course of fetal development. As a consequence, no proper muscle formation could take place in this region.

Fig. 29 - Omphalocele

Fig. 29

Intestinal loops are visible in an omphalocele. The musculature is absent.

The prune-belly syndrome

A prune belly syndrome results from an absence of the entire abdominal wall musculature, which can be traced back to an early embryonic developmental disorder.

Fig. 30 - The prune-belly syndrome

Fig. 30

The child has no abdominal musculature and the abdomen resembles a prune.

Myotonic dystrophy

Muscle dystrophies are hereditary disorders with progressive degeneration in the skeletal muscles without structural anomalies in the nerve system. They are classified according to the distribution and severity of the muscle weakness. The field is very complex and specialized books for further reading are recommended.

Congenital torticollis

Torticollis congenitalis is characterized by a shortening or contraction of the sternocleidomastoid muscle on one side. The head is tilted on the same side and turned towards the other side. The cause is unclear. On the one hand some make birth-trauma injuries responsible for it, but torticollis congenitalis also appears in children that have been born via a caesarian section.

Further rare diseases

  • Pseudohypertrophic muscle dystrophy
  • Mitochondral myopathy
  • Holt-Oram syndrome
  • Poland syndrome
  • Landouzy-Déjerine syndrome (facioscapulohumeral form of muscle dystrophy)
  • Absent muscles, usually without clinical consequences
  • Surplus muscles (M. soleus accessorius) without clinical consequences
  • Rhabdomyosarcoma