Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons

Abstract

Summary: Although polydactyly is quite common in general, preaxial polydactyly of the foot is rare (0.4 per 10,000 patients) and specifically associated with certain congenital abnormalities and syndromes, which can include craniosynostosis, corpus callosum agenesis, and renal malformations. We present 2 recent cases of preaxial polydactyly of the foot that highlight the importance of maintaining a high level of suspicion for associated abnormalities in these patients. The first patient, who presented with supernumerary preaxial digits on both feet, pre- and postaxial polydactyly of the hands, was also macrocephalic and hyperteloric; this presentation strongly suggested a diagnosis of Greig cephalopolysyndactyly, a GLI3 -variant syndrome. The second patient, who had 2 preaxial digits on one foot, was found to also have a horseshoe kidney, a malformation that has been associated with limb defects as part of an acrorenal syndrome. These cases emphasize the importance of a thorough clinical approach to patients with preaxial polydactyly of the foot. Although many patients with this anomaly may be well known to geneticists, a child may be referred to a plastic surgeon for reconstruction of what is thought to be an isolated cosmetic or local functional issue. Plastic surgeons should be aware of the complex nature of preaxial polydactyly of the foot and potential syndromic presentation.

A case of acrocallosal syndrome in a neonate with congenital heart abnormality

“…Despite the high incidence of hand and foot polydactyly, preaxial polydactyly of the foot is expected to occur in only 0.4 cases per 10,000 Europeans. 13 Preaxial polydactyly of the foot is related with other congenital anomalies and syndromes, such as craniosynostosis, renal malformations, and also corpus callosum agenesis in ACLS as seen in our patient. ACLS is an extremely rare developmental condition and only roughly forty cases have been reported globally to date.…”

A rare case of acrocallosal syndrome in a neonate with a history of maternal exposure to cosmetics-related chemicals

“…Polydactyly and agenesis of the corpus callosum are characteristics of acrocallosal syndrome (ACLS). Despite the high incidence of hand and foot polydactyly, preaxial polydactyly of the foot is expected to occur in only 0.4 cases per 10,000 Europeans [17]. Preaxial polydactyly of the foot is related with other congenital anomalies and syndromes, such as craniosynostosis, renal malformations, and also corpus callosum agenesis in ACLS as seen in our patient.…”

Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma

“…However, due to the low prevalence, most clinicians are unfamiliar with these congenital malformations and associated syndromes, which may therefore not be recognized at an early stage. Furthermore, the multiple phenotypes of polydactyly can range from a skin protuberance smaller than a finger to the doubling of a single phalanx [13] . The variability of clinical presentations, especially for less manifest cases may delay the diagnosis and consequently the surgical treatment.…”

“…Hence, the diagnosis may be a challenge for physicians in these less manifest cases. However, it is important to underline the need to make an early diagnosis even in these cases, in order to exclude other possible congenital anomalies and associated syndromes, which may require an early specific treatment [ 13 , 14 , 19 ]. Although rare, some cases have been described in the literature in which minimal alterations (not visible on neonatal physical examination), were instead diagnosed in more advanced stages, due to subsequent symptoms reported by patients, or more often by parents, with a variable impact on patients’ quality of life, such as the need for these patients to use 2 different shoe sizes or duplicated toe pain, or recurrent nail bleeding from a toenail [ 15 , 16 ].…”