Introduction 

Polydactyly, or the additional fingers or toes, is one of the most observable characteristics of Pallister-Hall Syndrome (PHS). The critical rare genetic disorder is a result of a mutation of the GLI3 gene, which has a significant role in the development of limbs and other body organs in the early fetus.¹ Due to the nature of the condition, as it impacts various body systems, such as the brain and hormone function, polydactyly surgery in PHS should be thought through. The treatment is not just aimed at enhancing the functioning of the hands or feet but also aimed at promoting the emotional and psychological well-being of the child and the family.

Understanding polydactyly in Pallister–Hall Syndrome

In PHS, supernumerary digits can be observed in the hands, feet, or both of a child. The illness may manifest itself in two forms. In postaxial polydactyly, the additional finger or toe is positioned at the outer part of the hand, close to the little finger, or at the foot, close to the small toe.^1,2 This kind is usually easier to treat since the additional digit can be loosely held by soft tissue. On the contrary, central or mesoaxial polydactyly is the presence of additional digits between the foot and hand. Such cases are usually more complicated in the sense that bones, tendons, and joints can be duplicated or shared across digits. Two or more toes or fingers are sometimes fused with the help of skin or tissue in a condition known as syndactyly.

Not all patients experience functional problems due to the additional digits. Nevertheless, surgery is not uncommonly suggested when the digits of children interfere with their movements or coordination or their daily life.² In other instances, the additional digits can impact the self-esteem of the kid or cause him or her to be mocked by other children. This can be restored through surgery to achieve a normal appearance and functionality that has a positive influence on psychological and social development.

Why surgery is not immediate

Surgery in PHS is scheduled as opposed to an emergency in the case of polydactyly. This is because PHS may have other severe medical conditions, which should be treated beforehand. A lot of patients experience hormonal imbalances due to pituitary malfunction. This may lead to adrenal insufficiency, which is potentially a life-threatening disorder wherein the body is unable to produce sufficient cortisol to respond to physical stress like surgery.^2,3 The doctors must carry out endocrine testing and, in some cases, start hormone replacement therapy before beginning the process of surgical planning to avoid complications. Airway abnormalities are another issue. Other airway malformations, such as a bifid epiglottis, are present in some children with PHS. These may render general anaesthesia risky. This is why surgery should be conducted in a hospital where pediatric anaesthesia specialists are familiar with such rare diseases. Concisely, the child is subjected to a complete examination before surgery. Surgery can be done once the levels of hormones are stabilised and airway safety is established.

Planning for surgery

Preoperative evaluation involves physical examination, medical imaging, e.g., X-rays, and in some cases, a CT scan to observe the bone structure and the formation of the joints. Imaging is also necessary, particularly in cases where there is a duplication of shared bone structures.^3,4 The surgeon relies on these images to design the operation in a manner that would preserve as much normal functioning and appearance as possible.

Another aspect of surgical planning is determining which digit has to be removed. The additional digit in certain instances is ill-formed and may be excised without its motion being disturbed. In other scenarios, the duplicate digit can be more practical than the one that has been made to be normal.⁴ Surgeons put a lot of consideration into which hand to save to have the most desirable hand function in the long run. Parents are also involved in every decision and informed about the objectives of the process and the postoperative expectations.

When is the best time for surgery?

The medical and developmental factors determine surgery. In simple postaxial polydactyly, surgery could be done in infancy or early childhood, with a range of 6 to 18 months. In more complicated cases of central duplications of the genitalia, surgery can be postponed until the bones have grown more mature, typically, 2-5 years old.^4,5 The child should be of an age that enables them to cooperate with the postoperative care and physiotherapy. The timing will also rely on the stability of the endocrine system of the child. When cortisol or thyroid deficiency is found, the surgery is postponed until the hormone therapy is controlled. For PHS, safety is always first, and an interdisciplinary approach can help determine the most appropriate time.

Surgical techniques

No single surgical procedure for polydactyly is used due to the uniqueness of each situation. The easiest ones are those of eliminating a brief additional number by performing a minor operation. But there are more complicated surgeries, which need sophisticated methods of reconstruction.

In central polydactyly, the surgery is used to restructure the bones, repair the joints, and rebuild the ligaments and tendons. The aim is to make the finger or toe stable and functional and not deformed. Microscopic surgery can be applied to safeguard nerves and blood vessels, particularly when the digits have common anatomy.^5,6 The bone is at times placed on temporary wires or pins to ensure that the bone remains in position throughout the healing process. Removal of these is done upon recovery. In case of the lack of sufficient skin to cover up the area following the reconstruction, skin grafts or tissue flaps may be necessary.

The fact that the remaining digit is well fed in terms of blood supply, nerve intactness, and avoidance of stiffness is vital in ensuring the success of the surgery. This is the reason why surgery for central polydactyly is only done by surgeons who have experience in the surgery of the hands or feet that are congenital.

Recovery after surgery

The recovery starts as soon as the operation is done. A cast or dressing of the hand or foot is taken for several weeks. Pain is treated using drugs, and families are educated on how to attend to the surgical site. Physiotherapy commences when the wounds are healing. Therapy is essential so that the stiffness is avoided and that children are taught how to use their reconstructed digits.^4,5,6 The exercises can be aimed at the grip strength, finger mobility, and coordination. The parents will come in with a supportive role in assisting children to practise exercises at home. Follow-up visits should be done regularly to check the healing process and to identify any initial issues. The above-mentioned healing process is, in most cases, painless, and children get adjusted rather quickly. When pins or wires must be utilised, they can be removed on a follow-up visit when bones are stable.

Risks and possible complications

Just like any other surgery, there are risks. These can be infection, bleeding, and poor wound healing. In complicated ones, the possibility of restricted finger movement or diminished sensation exists in case nerves are damaged. There are rare cases where the children might require further surgery in their later life, particularly when the bones develop in a manner that alters the alignment.^5,6 Children with PHS have specific risks associated with the anaesthesia and hormones. These risks, however, are mitigated through critical planning. The advantages of the surgery surpass the challenges for most families.

Long-term outcomes

Most of the long-term results of polydactyly surgery on PHS are excellent. Outcomes for children include better functioning, better looks, and more confidence.^1-3 Even in the cases when minor restrictions are present, they hardly come in the way of the daily operations. Children continue with medical follow-up and supportive treatment, leading to an active and fulfilled life.

FAQs

Is surgery always necessary for polydactyly in Pallister–Hall syndrome?

Not always. Some parents would not have their children undergo surgery when the additional number is not causing functional difficulties or emotional discomfort. Most, however, prefer correction to enhance functionality and appearance.

Is polydactyly painful before surgery?

Polydactyly certainly is not painful in itself. Surgery is predominantly carried out on grounds of functionality and appearance.

How long does recovery take after surgery?

The first phase of healing is approximately three to six weeks. Depending on the complexity of the surgery, full recovery through therapy can be realised in several months.

Can my child use their hand or foot normally after surgery?

The majority of the children recover normal or near-normal functioning. The results are optimal when surgical interventions are performed by skilful specialists and are accompanied by treatment.

Will the extra digit grow back?

No. After it is taken off, it does not regenerate. Further operation can, however, be undertaken as the child grows.

Is the surgery safe for children with hormone problems?

Fortunately, yes, provided that hormone levels are rectified and well checked before surgery.

Summary

Pallister-Hall Syndrome (PHS) is a condition that can be treated through surgery. Surgery can be effectively and safely performed when planned by a team of experts. Though the cases are unique, the majority of children result in excellent outcomes, including enhanced functioning, natural look, and self-confidence. Surgical treatment, used along with hormonal regulation and rehabilitation, will give the children who have PHS a chance to live their everyday lives in relation to physical growth and emotional stability.