Camptodactyly: Causes, Signs and Symptoms, Diagnosis, and Treatment

By | 11/01/2019
congenital or acquired anomaly

It’s a term used to describe a rare condition that results in the permanent flexion contracture of multiple fingers.

This medical term comes from the greek “klínein,” which means “to bend;” and “dáktulos,” which is “digit.” When combined in “Camptodactyly,” the word ends up meaning “bent finger.”

Camptodactyly consists of the position of flexion focused on the proximal interphalangeal (PIP) joint.

The PIP joints, in this particular case, refer to the middle knuckles of the fingers, in medical terms, these are the synovial joints between the proximal and the middle phalanges of the fingers.

When a patient has Camptodactyly, multiple fingers (usually the little ones) get fixed in a bent position at this particular joint, and people can’t fully straighten the affected fingers.

Camptodactyly is a rare condition which affects barely 1% of children worldwide.

Causes of Camptodactyly

Medical experts are still trying to figure out what are the factors that result in the development of this condition.

Some researchers theorize that Camptodactyly may have something to do with a defect in the patient’s genes.

Those who support this premise often highlight how this disorder occurs along with other genetic diseases such as the likes of the Marfan Syndrome and the Jacobsen Syndrome.

The Marfan Syndrome, which affects the connective tissue of several parts of the body, hands included, is the result of a mutation in the FBN1 gene.

That particular gene provides the instructions that ultimately result in the production of an extracellular matrix that make up the connective tissue.

On the other hand, Jacobsen Syndrome is a rare genetic disorder that consists of a developmental delay in speech and motor skills. The cause is the loss of genetic material from chromosome 11.

This chromosome contains a gene that provides instructions for the production of a protein known as EGF, which possibly stimulates the growth of elastic fibres that grant strength and flexibility to connective tissues.

While many people take all of this as evidence of a connection between Camptodactyly and genetic damage, others think the cause may be something less complicated.

Some medical experts think that Camptodactyly may occur if the infant has some of the following:

  • A tight skin at the time of birth
  • Some form of muscle abnormality
  • Irregularly shaped bones
  • Contracted tendons or ligaments

Despite all of these theories, researchers are still doing their best to find the root cause of this condition.

Signs and Symptoms

In mild cases, children are likely to be asymptomatic. The affected finger may be slightly curved, but the condition won’t have any significant impact on its function.

However, in the most severe of cases, Camptodactyly may affect the hand’s function.

The affected fingers stay in a flexed posture, and the child cannot completely straighten them.

Most cases don’t feature swelling, inflammation, pain or discomfort, but the condition may become worse as time goes by, especially during growth spurts.

As explained before Camptodactyly could occur along with other diseases that may cause systemic anomalies due to genetic issues.

Diagnosis

The first step medical experts may take to identify a case of Camptodactyly is performing a physical examination of the patient’s fingers.

Some doctors may recommend the use of other diagnostic tools such as X-rays, which could help a clinician to confirm the presence of Camptodactyly.

In other cases, medical experts could have their patients undergoing a range of motions tests to confirm if the condition is affecting movement and skill.

Another test clinicians may find useful is one they call “Nerve Assessment Test,” which helps doctors to find out if a case of Camptodactyly features damaged or compressed nerves.

The last test is meant to evaluate the severity of the condition to determine the best options a patient has to treat the Camptodactyly affecting their hands.

Treatment

The choices available to patients will depend on the severity of the condition as well as their age and development.

More often than not, Camptodactyly doesn’t require surgical intervention.

In mild cases, medical experts recommend finger and joint stretches to extend the range of motion of the affected digits, and a splint to hold the bent fingers in a straight position.

However, in severe cases, the child may need to undergo surgical treatment.

The most common procedures consist of dividing tendons that cause muscle shortening and transfer a muscle to the affected area to restore the hand.

Other surgical treatments may vary depending on the peculiarities of each case.

After surgery, doctors may put the child’s finger in a cast, a splint, or a sling to immobilize it as it recovers from the procedure. Usually, such a treatment has a favourable outcome for the patients.