Development of the hand and upper limb occurs during weeks 4 to 8 of the developing embryo. Initiation and progression of this process is dependent on a number of factors acting on certain cells under the governance of various genes. Disruption to any parts of this process can result in congenital hand anomalies.

Congenital hand differences are common (1 in 500 live births). The majority occur spontaneously, however there are a number of inherited conditions and genetic mutations known to cause congenital hand anomalies. Intrauterine events, drugs, infection and ionising radiation are also potential albeit rare causes.  

Some of the common differences include the presence of extra fingers (+/- toes), missing digits, fused fingers, and underdeveloped or overgrowth of structures. Thorough physical examination at the time of birth generally identifies abnormalities if they have not already been diagnosed on prenatal scans. Others however may be more subtle or develop over time.

It is normal to be anxious, and you may have already been given conflicting information.

Investigations may be organised by your primary care doctor or health service prior to referral to more specialised services or professionals such as Dr Tolerton. Some congenital hand differences are part of a syndrome and it is important that your child has been investigated appropriately and if necessary referred to other specialties. Genetic counselling is available for inherited or unusual conditions, and may be helpful in reaching a diagnosis. This can all be arranged by Dr Tolerton and her team.

Most children manage well into adulthood with untreated congenital hand differences, however early referral and review contributes to the most ‘normal’ development and functioning of your child’s hand. It may also prevent progression of deformity.

The decision of treatment including requirement for surgery is not always clear. Non-surgical treatments include physical therapy such as stretching and strengthening, splinting or external appliances to optimise position, and prosthetics to mimic or replace surgery.

Indications or the need for surgery varies greatly for congenital hand differences. Function is the primary reason to operate, however progression of deformity, symptoms (predominantly pain), and appearance may lead to surgical treatment in some children. Age, medical history, general health, extent of deformity and response to previous treatments also contribute to decisions regarding surgery.

Given the unique presentation of children with congenital hand differences, Dr Tolerton prefers to discuss the diagnosis and treatment options as they apply to each individual child; hoping to provide the best possible outcome for your child and family.

Congenital hand differences are usually treated in specialist centres, and Dr Tolerton currently works at both tertiary referral centres for congenital/paediatric hand surgery in Sydney, that being Sydney Children’s Hospital and The Children’s Hospital at Westmead.