Ectrodactyly: causes, symptoms and treatment

Retrieved 13.06.2022 PasseportSanté


Ectrodactyly is a very rare anomaly of the hands and / or feet. It is the absence of one or more fingers and / or toes, which gives the appearance of a “crab claw”.

In most cases, ectrodactyly does not require surgery and does not interfere with normal life.

What is ectrodactyly?

Ectrodactyly is a rare genetic and congenital anomaly that was first described in 1936.

This anomaly is the absence of one or more fingers or toes, due to a violation of the middle radius of the hands and feet. It can affect a member, such as four, a finger or several, at random, but a foot attack is often associated with a hand attack. These injuries vary from person to person. Ectrodactyly may be associated with a syndrome or isolated, ie develop, not associated with pathology.

Isolated forms are often sporadic, ie appear irregularly and accidentally. However, family forms are also described. The severity of the disease can vary greatly from one person to another, but also in different members of one individual.

Among the cases of ectrodactyly there are numerous syndromic forms. Indeed, there are more than 50 syndromes associated with ectrodactyly. In these cases, the anomaly is associated with other symptoms, different depending on the syndrome. Even in the case of the syndromic form, ectrodactyly remains a rare condition.

The incidence of ectrodactyly is estimated at 1 in 90,000 or 100,000 births. Its incidence does not depend on the sex of the person, it affects both men and women.

What are the causes of ectrodactyly?

Ectrodactyly is a genetic disease. There are several mutations that can lead to this malformation, and the genetic transmission of each is not yet fully understood.

In fact, it is an anomaly that represents a great deal of genetic heterogeneity, that is, the genetic profiles of the people who represent it are very diverse. This variability also explains the difficulty of establishing a single cause for all situations in which an anomaly can be found.

Whether the anomaly is isolated or associated with the syndrome, its transmission is genetic, dominant, or recessive, affecting one or more genes, which explains the variability of the lesion from one individual to another.

A genetic mutation prevents the development of certain bones in the phalanges of the fingers of the hand, which are called the wrists, or the toes, which are called the metatarsal bones. Connected fingers do not develop, which leads to the appearance of “crab claw”.

What are the symptoms of ectrodactyly?

The anomaly often manifests itself as syndactyly. These are two fingers or two fingers fused together with oligodactyly, ie with a congenital absence of one or more fingers on the hand or foot. This leads to a gap in the middle line of the hand or foot with opposite toes, which gives the appearance of the so-called “crab claw” or “lobster claw”.

Ectrodactyly is sometimes different: the hand has a monodactyly (ie one finger) with no radial rays, where only the fifth finger is present.

Patients may have only one or both abnormalities. Ectrodactyly can sometimes be associated with deafness, lack of iris or Alport syndrome (a hereditary, progressive familial disease that can cause poor kidney function, deafness and eye damage).

The diagnosis of ectrodactyly is established at birth during a clinical examination. The abnormality can also be detected before birth by ultrasound. Observations of ectrodactyly during the life of the uterus have been possible since the 1980s.

In most cases, medical intervention is not required to treat ectrodactyly. Affected people can live and walk normally every day.

The anomaly has no progression or complications. However, in some cases, they may be manifested by minor dysfunction of the hand or foot, depending on the degree of damage.

Surgical removal and adjustment of this anomaly is possible. Indeed, you can wear orthopedic prostheses. Surgery may intervene to close too large an opening between the fingers. This operation with good postoperative supervision improves the wearing of shoes, aesthetics and walking in people whose lives have suffered from the anomaly.

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