What is Ectrodactyly?

It is a genetic disorder caused by the deficiency of one or more digits of the hand or foot which are central in nature. The disorder presents itself with the absence of more than one fingers or toes.

This condition is also known as split hand or split foot malformations. It is known as the ‘lobster claw syndrome’ since the hands of the affected individuals look like claws. Sometimes, the two fingers or toes are merged together.

Ectrodactyly Causes

This genetic defect usually occurs due to genetic mutations. The mode of inheritance is autosomal dominant with minimum penetrance. It rarely occurs in autosomal recessive and X chromosome linked forms. This defect may also occur due to deletions, inversions in chromosome 7q and translocations.

The deletions in 7q can lead to a host of problems like:

  • Growth defects
  • Cranio-facial abnormalities
  • Hearing impairment
  • Mental retardation
  • Microcephaly
  • Hernia

In most of these situations, this defect is associated with other abnormalities and syndromes. The abnormality occurs when there is a failure to maintain median apical ectodermal ridge signals. Mutations in the P63 protein are also responsible for the development of this defect.

Ectrodactyly Symptoms

The symptoms of this disorder include:

  • Absence of sweat glands
  • Thinning of scalp hair
  • Coarse texture of scalp hair
  • Split hands
  • Very thin eyebrows
  • Scaly skin
  • Teeth abnormalities
  • Tiny nails
  • Fragile nails
  • Blonde hair
  • Thin eyelashes

Ectrodactyly Diagnosis

The diagnosis of this disorder is complex as its symptoms are similar to medical conditions such as ectodermal dysplasia syndromes. The diagnosis is generally done with the help of:

  • Clinical exams
  • Kidney imaging tests
  • Skin biopsy
  • X-ray examination
  • DNA testing

Ectrodactyly Treatment

There are several treatment measures which have the ability to correct the deformities of the hands. In the initial stages, hysical and occupational therapy helps sufferers. Patients are taught how to write, grasp objects and make their hands completely functional. However, the effect of this syndrome persists. Thus, some patients make usage of prosthetic hands to keep off others from staring.

Speech therapy helps affected people to speak clearly. Medical treatment is needed to protect the skin that lacks sweat glands and prevent it from becoming fragile.

Ectrodactyly Prognosis

The prognosis for this disorder is more or less good. The period of survival for this disorder differs from minimum to normal. The most serious complications result from sweating troubles that can result in coma, seizures and death. Patients should be allowed to have a normal social life which is very vital for their recovery. They should be encouraged to have a normal life with a career of their choice. They should be supported to rise above their disabilities. This can successfully cure the disease.

Ectrodactyly Pictures

The images presented here would help you understand the nature of this genetic defect.

Picture of Ectrodactyly

Picture 1 – Ectrodactyly

 Image of Ectrodactyly

Picture 2 – Ectrodactyly Image

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