Polydactyly of the Foot

Polydactyly of the Foot

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Polydactyly is the most common congenital anomaly of the forefoot. [1, 2, 3, 4, 5, 6, 7] It most commonly refers to the presence of six toes on one foot, but more toes are possible.

Polydactyly may be associated with syndactyly. It most frequently occurs as an isolated trait with autosomal dominant inheritance and variable penetrance. Other patterns of inheritance, [8] sporadic occurrence, and association with syndromes are also possible. [2, 9, 10]

Accurate understanding of the involved anatomy leads to better clinical results. Radiographs obtained after ossification of the involved bones allow for definitive treatment of the duplicated parts and all associated abnormalities. Greater appreciation of the longitudinal bracket epiphysis, often seen in the first metatarsal in children with preaxial polydactyly, and descriptions that allow for earlier diagnosis and correction of this abnormality lead to better outcomes.

Treatment for polydactyly of the foot has changed little over time. Removing the extra digit through disarticulation is the standard treatment. [4, 11, 12, 13]

Polydactyly may be divided into three broad categories as follows:

Postaxial polydactyly is the most common form, [6] occurring in 80% of cases, followed by preaxial polydactyly (see the image below) and then central polydactyly. The duplication may range from a well-formed articulated digit to a rudimentary digit. Abnormalities of the associated metatarsal commonly occur in polydactyly.

Other, more detailed classification systems have also been described (see Presentation).

Polydactyly may occur as an isolated trait or in conjunction with certain syndromes, and there is a positive family history in 30% of cases. The syndromes with which polydactyly has been associated include Ellis-van Creveld syndrome, [14, 15] trisomy 13, tibial hemimelia, and trisomy 21.

Polydactyly is mostly inherited as an autosomal dominant entity with variable penetrance. At least 10 loci and six genes have been identified as causing nonsyndromic polydactyly in humans, including ZNF141, GLI3, MIPOL1, IQCE, PITX1, and GLI1. [16]  

Adam et al observed clinical findings in 18 cases of diabetic embryopathy and preaxial hallucal polydactyly to identify the features most suggestive of diabetic embryopathy. [17] The authors found that proximally placed preaxial hallucal polydactyly, particularly when coupled with segmentation anomalies of the spine and tibial hemimelia, is highly suggestive of diabetic embryopathy. They added that diabetes in the mothers pointed to a possible genetic predisposition interacting with teratogenic effects of poor glycemic control. [18]

The incidence of polydactyly is 1.7 cases per 1000 live births. The frequency is higher in blacks (3.6-13.9 cases per 1000 live births) than in whites (0.3-1.3 cases per 1000 live births). Polydactyly is bilateral in 50% of cases and has a slight male predilection.

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Cara Novick, MD Consulting Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Cara Novick, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Jeffrey D Thomson, MD Professor of Orthopedic Surgery, University of Connecticut School of Medicine; Director of Orthopedic Surgery, Connecticut Children’s Medical Center; Vice President of Medical Staff, Connecticut Children’s Medical Center

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America, Scoliosis Research Society

Disclosure: Nothing to disclose.

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children’s Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

Polydactyly of the Foot

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