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Limb difference

8-minute read

Key facts

  • Congenital limb difference happens when part or all of a limb does not completely form.
  • Acquired limb difference can be due to an accident, or amputation of part or all of a limb.
  • Pregnancy screening ultrasounds may detect congenital limb difference.
  • Prosthetic or orthotic devices can be fitted to help with movement and functioning.
  • Children with a limb difference may qualify for Government funding.

What is limb difference?

Limb difference in children describes any child or young person born with difference in a limb, or who loses a limb early in their life. Limb differences can be either congenital, when the child’s limb does not form during fetal development, or acquired.

What are the types of limb difference?

There are 2 types of limb difference; congenital — present from birth, and acquired — usually from an accident, trauma or infection. Sometimes a surgical limb amputation is done because of an existing limb difference. This can help to make a prosthetic fit more comfortably over the remaining limb stump so the prosthetic can fit and work more effectively.

Congenital limb difference

Congenital limb difference can also be called congenital limb reduction, congenital limb deficiency or dysmelia. There are several causes of congenital limb difference; however, it’s generally caused because of genetics, environmental or pharmaceutical influence. Sometimes, congenital limb difference is caused by a syndrome and other features are present. Often, there is no known cause for congenital limb difference.

Acquired limb difference

Someone with an acquired limb difference may have had an amputation to remove all or part of a limb. This may be due to an accident (trauma) or an illness (cancer or infection).

When someone of any age has a limb amputated, they go through a range of physical and emotional changes. Healing, regaining coordination and balance, as well as returning to normal activities are common goals. When planning for amputation, one of the many aims is to consider if limb reconstruction is possible and how a prosthetic device will fit onto the stump. This is the portion of a limb that remains after a surgical amputation.

What happens if my child has limb difference?

Congenital limb differences may be first detected in pregnancy during screening ultrasounds. Understandably, this can come as a shock to expectant parents. You can expect to be offered counselling and early treatment planning. When a limb difference is diagnosed via a pregnancy screening ultrasound, the exact nature of the limb difference may not be clear until after the baby is born.

Reconstructive or limb-lengthening surgery can help to correct differences in the limb. In the case of an acquired limb difference from amputation, healing and therapies helping to support body function are prioritised. If a prosthetic device will be fitted, careful measurements are taken after the skin and stump have healed and any swelling has settled.

How is congenital limb difference be diagnosed?

Women who are considered ‘high risk’ for having a baby with a structural abnormality include those:

  • within an older age group
  • who have had harmful chemical exposure
  • who have hypothyroidism
  • who have a family history of congenital abnormalities — this can mean more frequent screening ultrasounds are done during pregnancy

All babies are examined by a doctor or midwife when they are born. One of the main purposes of a newborn examination is to look for any abnormalities. If a limb difference is not diagnosed during pregnancy, it is usually detected at birth by either a parent or health professional. Parents are usually present when their baby is examined and if there are any concerns, they have the opportunity to have their questions answered.

In the early stages of diagnosis, it may be hard to fully understand the extent of a limb difference and how it may potentially affect a child’s function. Investigations to confirm the diagnosis of limb difference may include X-rays, magnetic resonance imaging (MRI) and ultrasound. Tests can also detect signs of an underlying bone or genetic issue.

Parent and child support for children with a limb difference

Support services exist to provide medical, therapy and financial support to parents and their child. Early intervention support is offered through children’s hospitals and community health centres. It can take time for parents to work out which service provides each support. Teams are generally assigned to support families so that appointments with health professionals occur on the same day and place.

It’s important to remember that older children need to be involved in their treatment planning. How parents and health professionals communicate with them is vital so they feel they have a say in what is happening. They are also more likely to be compliant with therapies if they feel they are being listened to.

In Australia, there are several support allowances available for people with a disability and their carers. Depending on the degree of impact on the child and their need for care, asset and income tested financial support is also available.

The National Disability Insurance Scheme (NDIS) provides support and services to people with a permanent or significant disability. Funding from the NDIS helps to cover all reasonable and necessary disability equipment, care and support services for people aged from 0 to 65 years.

For children with a limb difference, NDIS funding can cover the cost of:

  • prosthesis
  • aids and equipment
  • home modifications
  • some therapy services
  • regular meetings with an NDIS planner to help plan for a child’s needs and goals
  • ongoing support once a child reaches 18 years of age

How to talk to family and friends about your child’s limb difference

Parents may find it challenging to talk about their child’s limb difference. They generally need time themselves after a correct diagnosis and treatment options have been discussed. There is no one right time or way to talk with others — every parent and family is individual.

Partners may see their child’s disability differently and not agree on how and when to talk with others. Talking and listening to each other is particularly important when a diagnosis is unexpected or treatment decisions need to be made.

How much you share with others and what you talk about is entirely your choice and how comfortable you feel. It’s normal to feel protective about our child, especially when they are very young and vulnerable. Most people are kind and aim to be supportive, especially in challenging situations. If, at first, you don’t feel like talking, let others know you’d like some privacy and time.

Some parents choose to tell family and friends before their baby’s birth, others prefer to wait until the baby is born. Parents who learn of their baby’s limb difference at birth may wait to share the news with others until they are ready. Talking with other people can help them understand your child’s situation which will, in turn, help them to support you.

Resources and support

When your child is diagnosed with a limb difference you will be offered a range of support and services. Most maternity hospitals have referral pathways for medical and allied health specialists and if recommended, genetic counselling.

Physiotherapy and occupational therapy are often recommended for children with a limb difference. These help to increase the strength and function of the affected limb.

You may be advised that your child could benefit from a prosthetic — a device that replaces a body part, or an orthotic — a device which supports a body part. Specialists who design and fit a prosthetic or orthotic are trained to measure and fit devices that help a child’s function and mobility. As the child grows, devices often need to be adjusted or replaced.

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Last reviewed: January 2024

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