Gaining the Upper Hand: Understanding the Causes and Repercussions of Delayed Presentation of Congenital Hand Anomalies

The impact of a pediatrician on a child’s life is immeasurable. From infant wellness checks to annual physical exams and every acute infection in between, pediatricians are trained to provide the broadest level of care to the smallest patients. It is within this broad scope that pediatricians are tasked with identifying congenital anomalies that often require specialized care or surgical correction. Although not immediately life-threatening, congenital hand anomalies require surgical correction at a young age to mitigate resulting disability during brain development. 

The most common congenital hand defect is polydactyly, involving an extra digit on the ulnar side (postaxial) or radial side (preaxial) of the hand.¹ Following polydactyly, syndactyly has the second highest incidence and most commonly affects the third webspace between the long and ring fingers.² Early surgical intervention of syndactyly between 6 and 18 months of age limits finger deformities from unequal growth of fused digits, which can result in deviation of the fused digits. Thumb hypoplasia is the second most common thumb anomaly and is treated with reconstruction versus pollicization depending on the stability of the carpometacarpal joint. When pollicization is indicated, it should be performed prior to 1 year of age, before the development of oppositional pinch, and should not be delayed past 2 years of age.² This case series addresses 3 patients with congenital hand anomalies who underwent surgical correction at an older age than ideally indicated and seeks to provide practical information for primary care providers and pediatric surgeons to allow parents or guardians to make educated decisions regarding surgical correction of their child’s hand.

A retrospective review of patients presenting to the University of Mississippi Medical Center’s Congenital Hand Center was performed for patients with delayed presentation of congenital hand anomalies. The database of patients was examined, and 3 unrelated pediatric patients with various congenital hand anomalies who were treated in the Congenital Hand Clinic at Children’s of Mississippi were included in this report.

Patient A is a 3-year-old female who presented with complex preaxial polydactyly of the bilateral hands and feet. She initially presented to a pediatric orthopedist at 4 months of age and was subsequently referred to a fellowship-trained hand surgeon within the plastic surgery division. Due to case complexity, surgical correction was recommended at 1 year of age. However, the patient was lost to follow-up until she was 3 years old due to her parents’ fear of surgical correction. In the interim period, this child reportedly had several encounters with her pediatrician. When she returned to the Congenital Hand Clinic, she was accompanied by her younger sister with similar anomalies. At this time, the patients’ mother realized that inability to grasp a writing utensil and participate in activities with her peers was worth the risk of surgical intervention. Thus, a staged surgical correction was scheduled beginning with left preaxial polydactyly excision and collateral ligament reconstruction to remove the duplicated thumb. At 2-month follow-up, the patient successfully demonstrated opposition and pinch, and polydactylous reconstruction of the right hand was scheduled.

Patient B is an obese 14-year-old male (BMI > 99%) who presented with simple incomplete syndactyly of the third web space, which had been present since birth. In this case, surgical correction was not scheduled in infancy or early childhood because the fusion was not disabling. As the patient aged, the bilateral webbing impacted his ability to participate in organized sports; by the time he presented, his participation in varsity-level sports was impaired. Syndactyly reconstruction was successful with greatly improved range of motion of the involved digits and good depth of the web space; however, at this older age his activities and school were interrupted, which would likely have been avoided with more expedient referral to pediatric hand surgery and earlier intervention. 

Patient C is a 4-year-old male with significant congenital cardiac defects as well as congenital nonfunctional hypoplastic thumbs (Manske type IV), frequently described as “pouce flotant.” Following treatment for the congenital cardiac anomalies in infancy, this patient was referred to a pediatric orthopedist who recommended surgical correction between 12 and 18 months of age. The patient’s mother was not comfortable proceeding with surgery at 14 months of age, and the patient was thereafter lost to follow-up until almost 3 years of age. In the meantime, the patient’s family was guided by his primary care provider, who insisted surgery should be delayed until 6 years of age.  Upon presentation to the Congenital Hand Clinic, staged index pollicization was scheduled. The patient’s left and right index pollicization procedures were performed at 36 and 46 months of age, respectively. 

Congenital hand anomalies, including polydactyly, syndactyly, reduction defects, club hand malformations, and syndromes involving upper limb anomalies, are amongst the most common birth defects, accounting for approximately 27.2 cases per 10,000 live births, equivalent to 1 in every 367.4 live births.¹ Compared with chromosomal abnormalities or congenital heart defects, congenital hand anomalies do not pose an immediate threat to the patient, often leading to deprioritization and resulting in these eventually being overlooked. However, timely surgical intervention provides the patient with the greatest likelihood of an aesthetic functional hand following reconstruction and minimizes permanent developmental delays. 

The 3 cases highlighted here illustrate recurring themes explaining delays in treatment for congenital hand abnormalities that might otherwise have been surgically improved or corrected earlier. Common reasons for delays in seeking treatment include parental fear of surgery, lack of suspected impact on later quality of life, and knowledge gaps with the primary care provider about availability of such surgical procedures. 

Timely surgical intervention capitalizes on the robust brain plasticity of a child. This is evident when considering ideal timing for thumb reconstruction. Surgical treatment of complex pre-axial polydactyly or hypoplastic thumb reconstruction should be pursued around 12 months of age, prior to the development of simple oppositional pinch. Further details involving surgical procedures as well as ideal age of surgical intervention are included below.

Congenital hand anomalies can result in functional as well as psychological limitations, including social anxiety and depression, for children.³ Hand function is essential for performance of daily tasks and plays a major role in a person’s interaction with both their peers and their environment.⁴ Unfortunately, delays in surgical intervention can also generate a variety of avoidable social problems. Children with congenital hand anomalies and other congenital differences have an increased risk of being bullied by their peers, particularly during primary school when children have yet to develop effective coping strategies.⁵ Additionally, difficulty with gross and fine motor tasks such as grasping a pencil or picking up small objects can impair self-esteem and developmental progress throughout their early education, hindering later academic and vocational success.

Patient and family education regarding surgical correction of congenital hand anomalies requires a multidisciplinary approach. Patients and their families spend far more time and develop closer bonds with their pediatricians or primary care providers than with their surgeons. Therefore, counseling by pediatricians may allow for more effective promotion of early surgical correction to prevent unnecessary complications.

Early referral to a pediatric hand surgeon in patients with congenital hand anomalies should be emphasized to all primary care providers to decrease delays in care and optimize outcomes for pediatric patients. This report offers a basic working knowledge of available reconstructive options as well as the timeline for surgical correction of these congenital differences. 

Affiliations: University of Mississippi Medical Center, Jackson, MS

Correspondence: Marc E Walker, MD, MBA^; mwalker6@umc.edu.

Disclosure: The authors disclose no financial or other conflicts of interest.