Articles published on Polydactyly
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- Research Article
- 10.15275/rusomj.2025.0403
- Dec 30, 2025
- Russian Open Medical Journal
- Amir Abdolmaleki + 3 more
Rationale — Osteogenesis occurs after the development of various ossification centers. Pathological duplication of these proliferative ossification centers can lead to bone bifurcation and, consequently, to polydactyly. Case description — This study presents a rare clinical case of a young woman (23 years old, 165 cm, 59 kg) who was referred to the Department of Orthopedic Surgery regarding restricted movement of the lower limb after engaging in professional sports. Clinical examination confirmed the presence of an extra toe on the foot, while X-ray examination diagnosed bifurcation of the fifth metatarsal bone (bifurcation of the bone with two medial and lateral heads and a common base). Orthopedists recommended surgical removal of the medial head and the associated toe. Physiotherapy was also recommended. Conclusion — The presence of various pathological centers of osteogenesis can lead to bone bifurcation and polydactyly. In such cases, surgical intervention followed by physiotherapy is recommended for the patient.
- New
- Research Article
- 10.1177/15589447251404958
- Dec 26, 2025
- Hand (New York, N.Y.)
- Hunter Myles Rogoff + 4 more
Preaxial polydactyly (PPD) is characterized by a supernumerary finger or duplication of digital parts on the radial aspect of the thumb. There is a wide phenotypic variety among presentations of PPD. Numerous classification systems have been created to categorize these phenotypes. Here, we present a rare case of PPD that does not fit into any of the known classification systems. The patient was born with a large nonosseous PPD. The patient was treated successfully with sharp excision, and pathology confirmed the diagnosis of a soft-tissue-only supernumerary digit containing unique features of vascular proliferation and subepidermal bullae. While this case is the only one of its kind, similar cases have been reported in the recent literature. Therefore, we should consider implementing this PPD phenotype into a classification system to guide patient counseling, clinical decision-making, and management.
- Research Article
- 10.1177/17470218251390500
- Oct 16, 2025
- Quarterly journal of experimental psychology (2006)
- Federico Brusa + 8 more
People with anorexia nervosa (AN) exhibit altered responses to embodiment and motor imagery tasks, indicating a more malleable mental representation of their body compared to healthy controls (HC). While this has been observed with the actual body, little is known about the mental representation of supernumerary body parts. Recently, it was demonstrated in HC that illusions of supernumerary fingers are not constrained by posture congruency. The current study aimed to evaluate the differences in the malleability of body representation for supernumerary body parts comparing 30 participants with AN and 30 HC using the sixth finger illusion which is a body illusion based on conflicting visual and tactile signals that lead to create the illusory perception of having an extra finger (i.e. a sixth finger). Synchronous visual-tactile stroking was delivered at four abduction orientations: 0°, 90°, 135° and 180°, plus a control condition. Participants were asked to complete an ownership questionnaire to judge the little finger's perceived orientation and the sixth finger's felt orientation when they agreed to feel six fingers. Both groups experienced the sixth finger in all orientations, despite biomechanical constraints. However, AN participants perceived the sixth finger closer to the hand's position. Previous studies in AN report higher flexibility of some body representation domains, such as embodiment and motor imagery. Interestingly, our study highlights that this higher flexibility does not seem to apply to all domains of the representation of the bodily self: AN participants showed reduced flexibility for the perceived orientation of the extra finger.
- Research Article
- 10.1016/j.concog.2025.103892
- Aug 1, 2025
- Consciousness and cognition
- Isabel T Folger + 1 more
Anchoring to the hand, but not spatially distinct mappings, facilitates illusory supernumerary finger embodiment.
- Research Article
- 10.1097/prs.0000000000012224
- May 28, 2025
- Plastic and reconstructive surgery
- Shaun D Mendenhall + 5 more
The Temtamy-McKusick classification defines ulnar/postaxial polydactyly with a well-developed accessory digit as type A and cases with a rudimentary pedunculated digit as type B. Surgeons widely agree on type B treatment, but type A cases present more diverse phenotypes and reconstructive challenges. We developed an expanded classification based on radiographic morphology that may help guide surgical treatment. The multicenter cohort included all type A ulnar polydactyly cases in the Congenital Upper Limb Differences (CoULD) Database and additional cases from the Children's Hospital of Philadelphia. Morphologic themes were determined from preoperative radiographs. Clinical relevance was evaluated by discussion and analysis of operative notes to confirm that each subtype carries distinct considerations for reconstruction. Four attending pediatric hand surgeons classified radiographs. Inter-rater and intra-rater reliability were determined by Cohen's κ. The cohort included 125 type A hands from 84 patients (49% bilateral). Fifteen cases (18%) were syndromic and 37 (44%) reported a family history. Six subtypes emerged from radiographic analysis. Our classification is based upon the proximal extent of the skeletal "duplication," comprising A1-Hypoplastic, A2-Phalangeal, A3-Divergent Metacarpophalangeal, A4-Bifid Metacarpal, A5-Duplicated Metacarpal, and A6-Complex types. We propose a reconstructive plan for each subtype to aid surgical decision-making. Inter-rater and intra-rater reliability were almost perfect. Raters agreed that all cases were classifiable, achieving 97% initial agreement. The CoULD Ulnar Polydactyly (CUP) Classification is feasible, comprehensive, and relevant to surgical management. The CoULD Study Group voted to adopt the classification after careful review, reinforcing its potential to frame the care pathway.
- Research Article
- 10.1177/17470218251347817
- May 23, 2025
- Quarterly journal of experimental psychology (2006)
- Denise Cadete + 4 more
Perceptual illusions of having extra body parts offer an experimental method to investigate the limits of body perception. It is well established that the illusory perception of an artificial hand as one's own is dependent on spatial congruency. That is, the seen hand needs to be in a posture congruent with the actual hand. In this study, we aimed to investigate how constrained the representation of a supernumerary body part is by systematically varying the perceived rotation of an illusory sixth finger. Surprisingly, participants felt a sixth finger on their hand consistently for all induced orientations of finger extension and abduction (0°, 90°, 135°, 180°). The illusion showed no apparent decrease with increased induced rotation of the extra finger. We also measured the perceived orientation of the sixth finger, and our results show that participants felt an extended and an abducted sixth finger increasingly more rotated as the induced rotation also increased, while feeling their actual little finger in a normal position. Our results indicate that one can feel a supernumerary finger in an incongruent spatial location from one's actual fingers and hand, to an extent of 180° of extension (finger up) and 180° of abduction (finger to the side). We therefore propose that the representation of the supernumerary finger has a strong independence from the actual finger and hand-frame reference.
- Research Article
- 10.1109/icorr66766.2025.11063063
- May 12, 2025
- IEEE ... International Conference on Rehabilitation Robotics : [proceedings]
- Alyssa N Maguina + 2 more
Individuals with grasping impairments face significant challenges in performing daily tasks due to reduced hand function. Existing supernumerary robotic fingers (SRFs) often rely on electronic components that limit their usability through added weight and power constraints. This work introduces the first body-powered wrist-driven SRF (bpSRF), a design that addresses these limitations by removing all electronic components. The proposed bpSRF weighs 52 g and is mostly made of 3D printed parts. Using body-powered actuation principles, the extra finger is driven by wrist movements, offering a practical, affordable, and lightweight solution for hand augmentation. The bpSRF has two degrees of freedom, enabling users to perform enhanced grasping techniques with minimal learning curve. Experimental validation with five healthy participants showed high success rates and rapid learning of novel grasping patterns for tasks involving large or multiple objects that typically require two hands. The design offers a workspace volume approximately three times larger than a human thumb, potentially expanding users' manipulation capabilities. This research contributes to a new paradigm in assistive technology, presenting a lightweight, cost-effective, and open source SRF that can enhance grasping abilities for individuals with motor impairments while also offering augmentation possibilities for healthy users.
- Research Article
- 10.1109/icorr66766.2025.11063126
- May 12, 2025
- IEEE ... International Conference on Rehabilitation Robotics : [proceedings]
- Marta Lagomarsino + 3 more
Prosthesis users can regain partial limb functionality, however, full natural limb mobility is rarely restored, often resulting in compensatory movements that lead to discomfort, inefficiency, and long-term physical strain. To address this issue, we propose a novel human-robot collaboration framework to mitigate compensatory mechanisms in prosthesis users by exploiting their residual motion capabilities while respecting task requirements. Our approach introduces a personalised mobility model that quantifies joint-specific functional limitations and the cost of compensatory movements. This model is integrated into a constrained optimisation framework that computes optimal user postures for task performance, balancing functionality and comfort. The solution guides a collaborative robot to reconfigure the task environment, promoting effective interaction. We validated the framework using a new bodypowered prosthetic device for single-finger amputation, which enhances grasping capabilities through synergistic closure with the hand but imposes wrist constraints. Initial experiments with healthy subjects wearing the prosthesis as a supernumerary finger demonstrated that a robotic assistant embedding the user-specific mobility model outperformed human partners in handover tasks, improving both the efficiency of the prosthesis user's grasp and reducing compensatory movements in functioning joints. These results highlight the potential of collaborative robots as effective workplace and caregiving assistants, promoting inclusion and better integration of prosthetic devices into daily tasks.
- Research Article
- 10.1097/scs.0000000000011316
- Apr 10, 2025
- The Journal of craniofacial surgery
- Kristian Bugeja + 2 more
This study evaluated the prevalence and outcomes of speech surgery procedures performed at Mater Dei Hospital (MDH), Malta, from January 2021 to December 2023. The focus was on patient demographics, surgical history, length of inpatient stay, opioid use postoperatively, repeat surgeries, and postoperative outcomes to identify trends and areas for improvement. A retrospective analysis was conducted on all patients who underwent speech surgery at MDH during the specified period. Data collected included patient age, gender, presence of syndromic conditions, previous surgical history, and postoperative complications. The cohort consisted of 6 male patients, aged between 8 and 26 years, 2 of whom required repeat surgeries. Syndromic conditions were present in 2 patients (33.3%), and these included Kabuki syndrome and foetal alcohol syndrome. All patients had previously undergone cleft palate repair, highlighting the multistage nature of surgical management in these cases. Among them, 50% (n=3) had additional procedures, such as excision of an accessory digit, bilateral myringotomy with grommet placement, and orchidopexy. No severe postoperative complications were recorded, although nausea, vomiting, and feeding difficulties were observed in 66.7% (n=4) of the patients. These issues were effectively managed without leading to significant concerns. Opioid use was low, with only 33.3% (n=2) of patients having postoperative opioids. The average length of stay was 2.5 days, ranging from 1 to 5 days. This study assessed the prevalence and outcomes of speech surgeries performed at MDH, Malta. The need for repeat surgeries in 33.3% (n=2) of cases underscores the importance of individualised and multistage surgical interventions. The low opioid use and manageable postoperative issues reflect effective pain and recovery strategies. However, ongoing comprehensive follow-up is essential to monitor long-term outcomes and further improve care strategies.
- Research Article
- 10.1038/s41598-025-96377-w
- Apr 3, 2025
- Scientific Reports
- Guoyao Wang + 5 more
Recently, the sixth finger illusion has been widely studied for body representation. It remains unclear how the stroking area, visual effects and the number of trials affect the illusion. We recruited 80 participants to conduct five trials by stroking the palm outside or little finger outside in conditions with and without wearing supernumerary rubber finger. The results show the stroking area has a greater impact on the intensity and independence of the illusion. And the palm outside can induce a stronger and more independent illusion. In addition, the sixth finger illusion induced by these four conditions was significantly influenced by the number of trials, and there is a significant enhancement in the intensity of the illusion induced by the palm outside as the number of trials increases. These indicate that stroking the outer lateral side of the palm can induce a relatively stronger and more independent sixth finger illusion, and the intensity of it reaches a steady state after three trials when wearing a supernumerary rubber finger and five trials when not wearing a supernumerary rubber finger. This study adds evidence to the research on multisensory integration and sensory feedback of the supernumerary robotic fingers.
- Research Article
- 10.1177/19386400251315886
- Feb 27, 2025
- Foot & ankle specialist
- Chanel Houston Perkins
Syndactyly-polydactyly-ear lobe (SPEL) syndrome is a rare, genetic, congenital limb malformation syndrome that can be characterized by 6 different human phenotypes. We report a rare case of SPEL syndrome in a young woman with right earlobe malformations and asymptomatic preaxial polydactyly with partial duplication of the right hallucal distal phalanx without a supernumerary toe. Unique aspects of our patient's clinical presentation include lack of a supernumerary digit with a bifurcated distal phalanx, associated earlobe malformations, adult age, and no reported familial history of SPEL syndrome. Syndactyly-polydactyly-ear lobe syndrome has not been reported in the literature since 1976, making the present case particularly noteworthy.Level of Evidence: Level 5, Case Report.
- Research Article
- 10.1111/evj.14472
- Jan 24, 2025
- Equine veterinary journal
- Ella Baville + 7 more
Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported. To characterise the phenotype of a non-syndromic pre-axial polydactyly in a horse family and to decipher the inheritance pattern. Retrospective study. Forty-three members of the family including a previously reported polydactyl case were recruited. Available clinical and radiographical findings from the initial case and its family members were summarised and karyotypic examinations of the horses were performed. On clinical examination, eight horses (including the previously reported case) had one or two supernumerary digits on their forelimbs and one additional case was diagnosed using radiography. Additional digits were located on the medial side of the forelimbs in all nine polydactyl horses. Radiography highlighted variable expression of the defect, which was either unilateral or bilateral. Variations were observed in the number of supernumerary phalanges, the level of development of a rudimentary metacarpal bone, the individualisation of a supernumerary digit and the existence of a rudimentary hoof. All nine affected horses were related to a single stallion. Pedigree analysis revealed that the most likely inheritance pattern was autosomal dominant with incomplete penetrance and variable expressivity. A more complex mode could not be ruled out. Restricted recruitment of the family members due to confidentiality constraints and to international dispersal of the relatives, quality of radiographs. We describe an equine preaxial polydactyly in a Berber and Arabian-Berber family most likely with autosomal dominant inheritance with incomplete penetrance. This is the first description of an inherited non-syndromic polydactyly in horses.
- Research Article
- 10.5455/jrvs.20250107024928
- Jan 1, 2025
- Journal of Research in Veterinary Sciences
- Aondowase Umayange
Embryological malformations due to congenital abnormities that are also called birth defects in animals are sequel to toxic substance exposure (pollutants), malnutrition, genetic disorders, infection and diseases. These congenital abnormities have been reported in cattle, pigs, sheep and goats with very rare incidence of 1; 2,800- 250,000 births (Schneovoigt et al., 2014). Generally, the occurance of conjoined twins is sporadic and very rare, thus most of it aspect remains theoretical and academic exercise due to poor monitoring and reporting of conjoinital malformations in Africa, However the description of these conjoined twins has been reported in mammalian and non-mammalian animal’s species recently in Nigeria; orofacial clefts, neural tube defects, and lim deficiencies, oculocutaneous hypopigmentation (white eyes) osteopetrosis (marble bone disease) polydactyly (extra toes) progressive bovine myeloncephaly (weaver Calf) (Spencer, 1992). The frequency is higher in bovine and moderately in swine and ovine while very rare in horses and caprines (Spencer, 1992). In this work will present, a case of Dicephallus parapagus paired twins delivered through cesarean section following an interminable dystocia of West African Dwarf Doe. The dicephallus parapagus pair of male twins died few hours after invasive surgical delivery and a thorough post mortem examination was carried out. We present a case report on the gross external features of the pair Dicephallus parapagus bipus twin kids. There is a need to intensify collaborative surveillance by constant monitoring and reporting such cases of congenital malformations of our domestics and wild animals in the Nigeria among veterinarian, animal health workers and wild life scientists.
- Research Article
- 10.24911/jbcgenetics.11-2336
- Jan 1, 2025
- Journal of Biochemical and Clinical Genetics
- Aneela Hazoor + 4 more
<p><strong>Background: </strong>Polydactyly is common congenital limb anomaly characterized by having extra fingers or toes and can be either syndromic or non-syndromic. GLI3 plays an important role in limb development via the Sonic Hedgehog signaling system.&nbsp;<br /><strong>Methods and results:</strong> In this study, we examined a Pakistan family with postaxial polydactyly in an autosomal dominant manner. Clinical assessment confirmed non-syndromic presentation without further systemic abnormalities. Whole exome sequencing and Sanger validation identified a novel heterozygous missense variant in GLI3 (Glioma-associated oncogene homolog 3) [NM_000168.6: c.3199C&gt;T; p. (Pro1067Ser)].<br /><strong>Conclusion:</strong> This novel variant expands the GLI3 mutation spectrum and highlights the importance of comprehensive genetic screening for accurate diagnosis and counselling of families with isolated polydactyly.</p>
- Research Article
1
- 10.1109/tnsre.2025.3574133
- Jan 1, 2025
- IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society
- Rateb Katmah + 7 more
This study investigated the impact of Supernumerary Robotic Fingers (SRFs) on cognitive function during activities of daily living (ADLs) among a group of unimpaired individuals. The increasing global prevalence of stroke has heightened the need for effective rehabilitative solutions which address both motor and cognitive dysfunction simultaneously. Robotic-aided therapies, including SRFs, provide promising means towards enhancing self-sufficiency and independence in individuals with post-stroke. However, a full understanding of how individuals with post-stroke interact and adapt to SRFs remains elusive despite being key to optimizing SRF efficacy. Electroencephalography (EEG) was employed here to study cognitive adaptability during daily SRF-assisted tasks. Specifically, functional connectivity and graph theory analytical metrics were applied to the experimental data to elucidate alterations in cerebral connectivity of the frontal cortex. Our findings reveal significant changes in EEG activity during SRF-assisted tasks, with notable impact on attention, motor planning, and emotional expression. Moreover, disruptions in local neuronal connectivity imply potential challenges in SRF-assisted activities. This work not only expands our understanding of neural dynamics, as associated with SRF use, but also lays the foundation for future research into the cognitive aspects of assistive technologies, paving the way for the design and development of more effective holistic rehabilitation interventions for stroke survivors.
- Research Article
- 10.1109/tnsre.2024.3514135
- Jan 1, 2025
- IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society
- Jungpyo Lee + 5 more
Spinal cord injuries (SCI) substantially affect sensory, motor, and autonomous functions below the level of injury, reducing the independence and quality of life for affected individuals. Specifically, people with SCI between C5 and C7 cervical levels encounter limitations in voluntary finger and wrist flexion, reducing grasp capability. Compensatory strategies like tenodesis grasp, whereby wrist extension passively closes the fingers, remain; this is effective for small and light objects but insufficient for heavier ones. Typically, wearable assistive exoskeletons are designed to actuate a person's fingers, however, such devices are sensitive to anatomical variability, such as hand size and joint contractures. The Dorsal Grasper is a wearable device designed to address this challenge by leveraging voluntary wrist extension and providing human-robot collaborative grasping capabilities with underactuated supernumerary fingers on the back of the hand. In this study, we introduce kinematic assessment methods that we use to show how the Dorsal Grasper expands the graspable workspace and reduces trunk motion, especially in situations where the use of a wheelchair restricts the individual's posture. Our functionally relevant experiments with multiple SCI participants demonstrate the Dorsal Grasper's potential as a versatile assistive solution for enhancing grasping capability in individuals with distinct SCI profiles.
- Research Article
- 10.34119/bjhrv7n9-168
- Nov 21, 2024
- Brazilian Journal of Health Review
- Paulo Arthur Mendes Milhomem + 4 more
Polydactyly is a common congenital abnormality that affects the fingers of the hand. The duplication can be preaxial, postaxial, or central. The different embryological origins and complex formation of the fingers make the association of different patterns in an ipsilateral form quite uncommon. These duplications can be bony or soft tissue and are graded based on their complexity and they are usually diagnosed at birth and should be treated by the age of 5. The case involves a 9-year-old male patient with congenital deformities in both hands. The patient has complex polydactyly in the left hand, involving both preaxial (with a triphalangeal ulnar thumb) and postaxial components (with only soft tissue duplication). The postaxial deformity in the right hand also involved only soft tissue duplication. Additionally, there is a positive family history of polydactyly. Surgical intervention was initially chosen for the left hand due to its greater complexity. A postaxial supernumerary finger was excised. In the preaxial component, disarticulation of the more radial thumb, tendon and ligament transposition to the remaining finger, as well as osteotomy and distal interphalangeal arthrodesis were performed to correct clinodactyly and triphalangism. The patient progressed well, without complications, achieving good function and aesthetics after initial rehabilitation. Preaxial polydactyly is typically sporadic and unilateral, often associated with other syndromes. The association of these two forms in the same limb is rare due to the different pathways that lead to these deformities. The surgical approach varies depending on the type of polydactyly and the degree of limb involvement. Various surgical techniques are described, ranging from excisions of postaxial cases to severe preaxial deformities requiring complex reconstructions. The reported case is an example of a rare and severe congenital deformity treated surgically. The patient has good functionality and favorable aesthetics.
- Research Article
5
- 10.1186/s12864-024-10671-x
- Aug 2, 2024
- BMC Genomics
- Ruoshi Huang + 2 more
BackgroundSilkie is a traditional Chinese chicken breed characterized by its unique combination of specialized morphological traits. While previous studies have focused on the genetic basis of these traits, the overall genomic characteristics of the Silkie breed remain largely unexplored. In this study, we employed whole genome resequencing data to examine the genetic diversity, selective signals and demographic history of the Silkie breed through comparative analyses with seven other Chinese indigenous breeds (IDGBs), a commercial breed, and the wild ancestor Red Jungle Fowl.ResultsIn total, 20.8 million high-quality single nucleotide polymorphisms and 86 large structural variations were obtained. We discovered that Silkie exhibits a relatively high level of inbreeding and is genetically distinct from other IDGBs. Furthermore, our analysis indicated that Silkie has experienced a stronger historical population bottleneck and has a smaller effective population size compared with other IDGBs. We identified 45 putatively selected genes that are enriched in the melanogenesis pathway, which probably is related to the feather color. Among these genes, LMBR1 and PDSS2 have been previously associated with the extra toe and the hookless feathers, respectively. Six of the selected genes (KITLG, GSK3B, SOBP, CTBP1, ELMO2, SNRPN) are known to be associated with neurodevelopment and mental diseases in human, and are possibly related to the distinct behavior of Silkie. We further identified structural variants in Silkie and found previously reported variants linked to hyperpigmentation (END3), muff and beard (HOXB8), and Rose-comb phenotype (MNR2). Additionally, we found a 0.61 Mb inversion overlapping with the GMDS gene, which was previously linked to neurodevelopmental defects in zebrafish and humans. This may also be related to the behavior distinctiveness of Silkie.ConclusionsOur study revealed that Silkie is genetically distinct and relatively highly inbred compared to other IDGB chicken populations, possibly attributed to more prolong population bottlenecks and selective breeding practice. These results enhance our understanding of how domestication and selective breeding have shaped the genome of Silkie. These findings contribute to the broader field of domestication and avian genomics, and have implications for the future conservation and breeding efforts.
- Research Article
- 10.3390/ani14091329
- Apr 29, 2024
- Animals
- José Diomedes Barbosa + 10 more
Bovine Dewclaw Dermatitis (BDCD) is a hoof disease characterized by inflammation of the second and fifth accessory digits and the skin in this region. This pathology is poorly described in the literature; however, it has recently been observed in beef cattle in the Amazon Biome, Brazil. The objective of this study was to perform a clinical diagnosis and identify the risk factors associated with BDCD onset in cattle in the studied biome. Samples were collected from eight farms with extensive breeding systems located in Xinguara, Rondon do Pará, Curionópolis, and Ipixuna do Pará in the state of Pará, Brazil. A total of 706 Nellore and Nellore crossbred with taurine bovine of both sexes were evaluated, with males aged between 2 and 4 years and a mean weight of 650 kg, and females aged between 2 and 11 years and a mean weight of 400 kg. Distal extremities were inspected during cattle management, and in cases of dewclaw lesions, a specific examination was carried out after proper restraint. Cattle were diagnosed with BDCD on all farms analyzed. Of the 706 cattle inspected, 49 (6.94%) showed BDCD, of which 19 (38.77%) were Nellore and 30 (61.22%) were crossbred. This was the first study to determine BDCD's occurrence in extensive farming systems in the Amazon region, also showing that pastures with large amounts of stumps and stones, the physical structure of pens, and trauma and injury incidence during animal management are the most important predisposing factors for the onset of BDCD.
- Research Article
1
- 10.1590/1516-3180.2023.0349.r1.08042024
- Jan 1, 2024
- Sao Paulo medical journal = Revista paulista de medicina
- Samuel Ricardo Batista Moura + 7 more
Congenital Anomalies of the Upper Limb (CAUL) are a group of structural or functional abnormalities that develop during intrauterine life and can lead to limb dysfunction. To analyze the prevalence of congenital anomalies of the upper limbs in Brazil and assess maternal and neonatal variables. A cross-sectional, descriptive study was conducted on congenital upper limb malformations among live births across Brazil. The study spanned from 2010 to 2019. Data were sourced from the Department of Informatics of the Unified Health System (DATASUS) and the Live Birth Information System (SINASC) portal. Analyses focused on the information reported in field 41 of the Live Birth Declaration Form entered into the computerized system. The most common anomaly in Brazil was supernumerary fingers, classified as ICD-Q69.0, affecting 11,708 children, with a prevalence of 4.02 per 10,000 live births. Mothers aged over 40 years had a 36% higher prevalence of having children with CAUL than mothers under 40 years old (OR = 1.36; 95% CI 1.19-1.56). Newborns weighing ≥ 2,499 g were 2.64 times more likely to have CAUL compared to those weighing ≥ 2,500 g (OR = 2.64; 95% CI 2.55-2.73). There was an observed increase in the reporting of CAUL cases over the decade studied. This trend serves as an alert for health agencies, as understanding the prevalence of CAUL and its associated factors is crucial for preventive medicine.