Malformations

Malformations can take the most different forms and degrees of severity.

A congenital malformation is medically defined as the deformity of an organ that developed prenatally, meaning before birth. It may also affect several organs simultaneously. Characteristic combinations are called malformation syndromes.

Classifications

Aplasia Absence of an organ
Hypoplasia Underdevelopment of an organ
Inhibition Premature stagnation of organ development
Atresia Abnormally closed hollow organ
Dystopia Tissue is in a place in which it usually is not present
Choristoma Normal tissue in an abnormal location
Fusion Merging of tissues
Malrotation Failure to turn correctly
Duplication  

 

Causes

The cause of a malformation can be detected only in the rarest of cases. Malformations may occur spontaneously without a detectable cause, may be hereditary or may be triggered by exogenous factors.

Exogenous factors suspected to cause malformations are:

  • Nutrient deficiency of the mother
  • Infections of the mother
  • X-rays or other ionizing radiations
  • Medications
  • Alcohol
  • Chemicals
  • Anomalies of the fetal position in the womb

Kind and extent of malformations due to exogenous factors depend on the time of exposure.

Frequency

Approximately two percent of all newborn children have genetic peculiarities or physical malformations.

For example, in Germany, one of 500 babies is born with a cleft lip and palate, and about 0.5 to 0.7% of all live-born children are born with a cardiac defect. A clubfoot is seen in approximately one of 1,000 children, this affects boys twice as frequently as girls.

STANDBEIN e.V. focuses on the "three major" malformations of the lower extremities: