Pediatric polydactyly is a common congenital disorder of the hand and foot that affects the development and psychology of children. It can be classified into postaxial polydactyly, preaxial polydactyly and central polydactyly. Among the three types, central polydactyly is the rarest, resulting in limited literature pertaining to the management of this condition. We present a rare case of central polydactyly of the left foot with nine toes. A 10-month-old female child was brought to us with left congenital central mirror foot and ill-fitting shoe concerns. The foot had nine toes and eight metatarsals with tarsal duplications. To correct the contour of the foot, the central polydactylous components were excised through a V-shaped incision. After a follow-up period of two years, the outcomes of the operation were satisfactory based on the American Orthopaedic Foot and Ankle Score, and values of the distance between the head of the first metatarsal and fifth metatarsal and the distance between the base of the first metatarsal and fifth metatarsal were improved notably. We successfully treated an extremely rare case of central mirror foot. There is a unique challenge in treating central polydactyly of the foot, particularly when the tarsal and metatarsal bones are duplicated. Surgeons should identify it preoperatively and take into account the duplicated tarsal bones while planning the surgery. Not applicable.

To determine the significance of polydactyly identified on prenatal ultrasonography and provide a detailed analysis of characteristics and perinatal outcomes of fetal polydactyly. This is a retrospective cohort study of pregnancies with a postnatal diagnosis of fetal polydactyly between January 2016 and December 2023. The population was divided into 2 groups at postnatal diagnosis: the isolated polydactyly group and the nonisolated polydactyly group. Clinical data, prenatal ultrasonography, related genetic results, and postnatal outcomes were obtained. Our study cohort comprised 328 fetuses with polydactyly. The overall detection rate of polydactyly by prenatal ultrasound was 19.2%, and the first detection rate in the first-, second-, and third-trimester were 0.9%, 14.6%, and 3.7%, respectively. Preaxial polydactyly (PPD) of hand was the most common type and the most common type of foot polydactyly was postaxial polydactyly (PAP) both in the isolated group and in the nonisolated group; the central polydactyly is rare. Syndactyly was the most common abnormality complicated with polydactyly. Between the nonpolydactyly group, the isolatedpolydactyly group and the nonisolated polydactyly group, there was a significant difference in perinatal outcome (P < .001). The second trimester is the best gestational age for prenatal ultrasound detection of polydactyly. Polydactyly of hand was more likely PPD, while polydactyly of foot was more likely PAP. When polydactyly is detected by routine prenatal ultrasound, detailed ultrasound examination and prenatal counseling should be performed to determine the possibility of an underlying genetic syndrome.

Polydactyly, which is the presence of an extra appendage on the hand or the foot, is a common congenital anomaly encountered in children. It may be an isolated finding or found in conjunction with other congenital anomalies and syndromes. Polydactyly can occur in the hands or the feet. In the hand, it may occur as radial polydactyly (pre-axial polydactyly) or ulnar polydactyly (post-axial polydactyly (PAP)). Depending upon the side of occurrence, it may be medial, that is, toward the little finger (called ulnar polydactyly) or lateral, that is, toward the thumb (called radial polydactyly). On the feet, the extra digit can either be present on the side of the great toe (called tibial polydactyly) or on the side of the little toe (called fibular polydactyly). In both the upper and the lower limbs, affection of the central three digits is called central polydactyly. Central tetrapolydactyly, which is the presence of an extra appendage on all four limbs, is much more rarely encountered. This case report describes a 15-month-old female child who presented with findings of six digits on all four limbs and deviation of the left angle of mouth since birth. Her echocardiography showed a large atrial septal defect measuring 7 mm, with a left-to-right shunt. This is the first such case reported from all over the world from a tertiary care hospital with the aforementioned findings. Polydactyly, a very common congenital anomaly, should not be ignored in pediatric settings. It is important to diagnose associated features such as congenital heart diseases (CHDs), genitourinary abnormalities, and orofacial abnormalities to facilitate timely surgical correction and help improve the quality of life of those affected.

Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven't come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.

Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with various morphologic phenotypes. Apart from physical and functional impairments, the presence of polydactyly is an indication of an underlying syndrome in the newborn. Usually, it follows as an autosomal dominant/recessive inheritance pattern with defects in the limb development's anteroposterior patterning. Although mutations in several genes have been associated with polydactyly; however, the exact underlying cause, pathways, and disease mechanisms are still unexplored, thus making it of multi-factorial origin. Polydactyly is divided into three subtypes; radial, ulnar, and central polydactyly. So far, 11 loci (PAPA1-PAPA11) and seven human genes have been reported to cause non-syndromic postaxial polydactyly in humans, including the ZNF141, GLI3, IQCE, GLI1, FAM92A1, KIAA0825, and DACH1. In this review, we discuss emerging evidences of clinical and molecular characterization of polydactyly types in term of the involvement of newly associated genes and loci for non-syndromic postaxial polydactyly, and how these might impact our understanding of the genetic mechanisms and molecular etiology involved in the cause of polydactyly.