Congenital and acquired deformities of the lower extremities

Congenital deformities are those caused by alterations in genes or chromosomes and are usually hereditary. During pregnancy they can be caused by drugs, infections or toxic substances.

Some examples of these would be the following: anomalies of the fingers or toes (polydactyly); developmental hip dysplasia or dislocation or clubfoot.

Acquired deformities are those that develop after birth and may be progressive in nature, increasing in severity as the patient grows and develops. For example, remodeling of fracture healing or osteoarthritis in the lower extremities.

Other pathologies such as scoliosis may be of a mixed nature. In this case there is a genetic or familial factor, as well as an increase of the deformity with growth in adolescence.

Why do congenital leg deformities appear over time?

Congenital deformities do not appear, but are produced during embryonic development and in most cases by chromosomal inheritance or intrauterine alterations prior to birth.

It is true that, with increasing age, weight, work activity and other factors in the person, deformities that in the first years of life were not apparent or did not give symptoms may decompensate.

Is there a profile of a child prone to suffer from them?

A genetic-hereditary family history causes a predisposition to greater “weight” and nutritional factors, sporting activity, obesity… There is a favorable environment to suffer from certain pathologies.

For example, an early onset of gait can cause genu varum (bowed knees), and this can be aggravated by vitamin D deficiency or obesity.

What about congenital deformities? What causes them?

The most relevant cause is genetic inheritance. For example, the association of female sex or family history in developmental dysplasia of the hip; family history in scoliosis or female sex in juvenile hallux valgus (bunion) are relevant.

What are the most common lower limb deformities?

Basically, there are deformities in what we call the coronal plane: genu varum (bowed knees) or genu valgus (X-shaped knees that interlock), or in the axial plane, which are caused by anomalies in the rotation of some segment of the lower extremities, such as femoral anteversion (inward rotation of the feet) or external rotation of the tibia (walking with the feet very far outwards).

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Dysmetria (difference in length between the two extremities) is also a very frequent occurrence.

Among the foot deformities, flat feet and pes cavus are the most frequent, as well as clubfoot as a congenital deformity.

Apart from the visual aspect, do these deformities have symptoms?

In children -even very striking deformities- do not usually produce symptoms or signs of pain. However, with development and growth into adulthood, the enormous compensation that children show disappears, and severe pain symptoms develop. There are multiple examples:

  • Dysplasia or congenital hip dislocation or dislocation will – if not resolved in time – produce severe early osteoarthritis.
  • Uncorrected clubfoot will cause severe pain and deformity as early as adolescence.
  • Perthes disease of the hip will have moderate episodes of pain or limping, but early osteoarthritis of the hip.
  • Scoliosis does not cause pain even with significant angulations of the spine, but will produce – if not controlled or treated – very significant degeneration and osteoarthritis from the age of 20-25 years.
  • The dysmetry of the spine II (difference in length of the spine II), produces hardly any symptoms in childhood and adolescence. However, the increase of this difference with the growth of the child will cause deformity of the spine (scoliotic attitude) or alteration with possible subluxation of the hip on the side of the limb of greater length…

It is the responsibility and challenge of traumatologists and pediatric orthopedic surgeons to prevent childhood deformities from reaching adulthood without control or resolution. This would avoid symptoms and deformities that would be very difficult and aggressive to solve once adulthood is reached.

How can they be treated? When is the ideal time? How are the results?

The expression “Prevention is better than cure” is never truer. The earlier the diagnosis and the treatment applied at the right time, the better the results. It is also true that there are few expressions more erroneous than “children are small adults”. The pathologies in Pediatric Orthopedics do not have points in common, both in diagnosis and treatment, with adult pathologies. Two are the characteristic facts in Pediatric Orthopedics: the necessary individualization of each pathology, which has different individual characteristics, and the application of treatments at the appropriate evolutionary moments.

For more information, please consult a traumatologist or pediatric orthopedic surgeon.