What Does Split Hand Malformation Mean?

Split Hand Malformation is a rare genetic condition which is characterized by complete or partial absence of fingers of the hands. Additionally, there may be webbing of the fingers of the hands. There will be a claw hand deformity visible in children affected with Split Hand Malformation.

Additionally, there are many more deformities that tend to appear in Split Hand Malformation. The severity of the abnormalities in this condition tends to vary and may range from mild to extremely severe where there may be complete absence of fingers of the hands. These variations of deformities tend to vary in the affected members of the same family.

What Does Split Hand Malformation Mean?

Split Hand Malformation can follow an autosomal dominant as well as recessive trait meaning that even if one copy of the defective gene is inherited from any parent then the offspring may develop Split Hand Malformation. Whereas, in some cases two copies of the defective gene, one from each parent results in the offspring developing Split Hand Malformation.

What Are The Causes Of Split Hand Malformation?

Split Hand Malformation may follow an autosomal dominant or recessive trait and in some cases may result out of sporadic mutation of genes. In an inherited form of Split Hand Malformation, both the hands will be affected while in cases of sporadic or new gene mutation then only one hand will be affected.

Split Hand Malformation is believed to be caused by mutations of five different genes which are linked to chromosomes 2, 3, 7, 10, an X chromosome. Mutations of genes in any of these above mentioned chromosomes can result in development of Split Hand Malformation.

What Are The Symptoms Of Split Hand Malformation?

There are basically two types of Split Hand Malformation of which one is the lobster claw form in which the third digit of the hand is absent and instead there is a cleft which is cone in shape which goes down into the wrist and divides the hand into two parts. The remaining fingers are webbed together. The hand resembles the claw of a lobster and hence this type of Split Hand Malformation gets its name.

This deformity affects both hands similarly. The second type of Split Hand Malformation is one in which only the fifth digit is present. There is no cleft identified. There have been cases where different members of the same family have either variety of the Split Hand Malformation. In some cases, complete hearing loss is reported in people with Split Hand Malformation.

Apart from the deformities, the affected individual will have no other abnormalities and tend to live a normal life with normal intelligence, although they tend to have physical limitations in performing day to day tasks with their hands due to Split Hand Malformation.

How Is Split Hand Malformation Diagnosed?

The physical presentation of the hands at birth is a virtual give way in diagnosing Split Hand Malformation. Radiological studies may give additional information on the extent of the deformity and about any other deformity that might be present. Additionally, genetic testing to check mutation of the genes responsible for this condition may be done to definitively diagnose Split Hand Malformation.

What Is The Treatment For Split Hand Malformation?

The most preferred way to treat Split Hand Malformation is by doing reconstructive surgery. In this the missing fingers are reconstructed to as much extent as possible.

If the patient is not a candidate for any sort of reconstructive procedure then prosthetics are preferred which can be extremely useful in making the patient independent and increase the ability of the patient to perform daily activities as independently as possible despite Split Hand Malformation.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: August 9, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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