ABSTRACT
BACKGROUND: In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported. Treatment of the complete deformity will prevent further foot and gait disorders. OBJECTIVE: To identify literature relevant to the operative management of Y-shaped metatarsal with biphalangeal sixth toe and related skin and wound care to improve surgical treatment protocols from a clinical experience perspective. DATA SOURCES: The authors searched several electronic databases in December 2022 for articles related to postaxial polysyndactyly in the feet and polymetatarsia. Databases searched included PubMed, SciELO, ScienceDirect, Cochrane Database of Systematic Reviews, and Google Scholar gray literature. STUDY SELECTION: Two independent researchers conducted the searches and read the article titles and abstracts. Studies were included if they were narrative reviews, case studies, or observational studies; written in English or Spanish; and published between 2012 and 2022. Nonhuman studies were excluded. Studies that met the inclusion criteria were fully evaluated. Disagreements between reviewers were resolved by consensus, and when there was no consensus, a senior researcher was consulted. DATA EXTRACTION: The following data were extracted from the included studies using a standardized form: author and year of publication, study type, number of participants, sex, polydactyly location, polymetatarsia, type of polydactyly, participants' history of hereditary associated diseases or malformations, treatment, removal criteria, and timing of surgery. DATA SYNTHESIS: Authors evaluated 11 studies of postaxial polydactyly that included a total of 153 participants (64 men, 89 women). They also document their clinical experience with a surgical technique used in cases of bilateral postaxial polydactyly of the foot with a Y-shaped metatarsal with biphalangeal sixth toe. CONCLUSIONS: Surgical correction with lateral removal of the sixth toe is a resolutive treatment to improve the functionality of the foot, its aesthetic appearance, and the patient's quality of life. Case-specific treatment should be applied and tailored to meet the individual needs. The biomechanics of gait and shoe problems in these patients improve with surgical treatment, without presenting secondary aesthetic problems in skin care.
Subject(s)
Metatarsal Bones , Polydactyly , Humans , Metatarsal Bones/abnormalities , Metatarsal Bones/surgery , Polydactyly/surgery , Toes/abnormalities , Toes/surgery , Female , Male , Fingers/abnormalitiesABSTRACT
PURPOSE: Treatment for polysyndactyly of the toes aims at cosmetic improvement but the lateroplantar rotation of the new fifth toe remains challenging. This study evaluated our novel surgical procedure for postaxial polysyndactyly of the toes. MATERIALS AND METHODS: Patients with postaxial polysyndactyly involving the fourth, fifth, and sixth toes treated in 2007 to 2017 with a minimum follow-up duration of 1 year were retrospectively investigated. Our aims of surgery for this condition were to avoid excessive lateroplantar rotation of the new fifth toe by using a proximally elongated plantar "shark-fin flap" and to make the tip of this toe appear to be naturally pointing inward by using the dog-ear component of the flap on the tip of the toe. The excess skin of the shark-fin flap was grafted onto the lateral surface of the fourth toe. Lateroplantar rotation of the fifth toe in these patients was compared with that in photographs of the feet of 96 normal 4-year-old children. RESULTS: A total of 11 feet in 10 patients (6 male, 4 female; mean age 1.3 years) were analyzed. Syndactyly between the fourth and fifth toes was complete in 3 feet, incomplete at the level of the distal interphalangeal joint of the fifth toe in 5, and incomplete at the level of the proximal interphalangeal joint of the fifth toe in 3. Lateroplantar rotation of the fifth toe, evaluated by the mean angle between 2 intersecting lines extending from the proximal nail fold of the third and fifth toes, was 25 ± 10° in normal feet and 0 ± 12° in operated feet with polysyndactyly. The absolute left-right difference in this angle was 7 ± 5° in normal children and 22 ± 12° in patients with polysyndactyly. Valgus deformity of the new fifth toe improved in all patients during a mean postoperative follow-up of 3.8 years. CONCLUSIONS: Using our procedure, no excessive lateroplantar rotation has been observed when the tip of the fifth toe is inclined inward using a dog-ear flap component. This procedure could be useful in patients in whom the cosmetic outcome is a priority.
Subject(s)
Esthetics , Surgical Flaps , Syndactyly , Toes , Humans , Female , Male , Syndactyly/surgery , Retrospective Studies , Child, Preschool , Japan , Infant , Toes/abnormalities , Toes/surgery , Treatment Outcome , Plastic Surgery Procedures/methods , Follow-Up Studies , East Asian PeopleSubject(s)
Polydactyly , Humans , Polydactyly/genetics , Polydactyly/diagnosis , Republic of Korea , Fingers/abnormalities , Toes/abnormalities , Male , Female , Phenotype , Mutation , Asian People/geneticsABSTRACT
Polydactyly is a genetic abnormality that affects both pig welfare and industry profits. Despite efforts to explore the genetic basis of pig polydactyly, progress remains limited. In this study, we analyzed a group of Large White pigs with postaxial polydactyly, including 29 cases and 79 controls from 24 families. High-depth sequencing was performed on 20 pigs, while low-depth sequencing was improved through imputation for the remaining pigs. A genome-wide association study (GWAS) and genetic differentiation were conducted using the resequencing dataset, resulting in the identification of 48 significantly associated SNPs and 27 candidate regions. The genetic differentiation regions on chromosomes 5 and 18, which harbored GWAS-identified SNPs, were delineated as confidence regions. The confidence region at Chr18: 1.850-1.925 Mb covers the fifth intron of LMBR1, a gene that contains an important regulatory element for SHH, known as ZRS. Mutations in this ZRS have been found to cause polydactyly in animals and humans. Therefore, we propose LMBR1 as a prospective candidate gene for postaxial polydactyly. These findings emphasize the importance of exploring the role of ZRS within LMBR1 in the pathogenesis of polydactyly in pigs.
Subject(s)
Fingers/abnormalities , Polydactyly , Swine Diseases , Toes/abnormalities , Humans , Animals , Swine/genetics , Genome-Wide Association Study/veterinary , Polydactyly/genetics , Polydactyly/veterinary , Polydactyly/pathology , Fingers/pathology , Mutation , Swine Diseases/geneticsSubject(s)
Toes , Humans , Toes/diagnostic imaging , Toes/abnormalities , Male , Radiography , Diagnosis, Differential , Child, Preschool , FemaleSubject(s)
Toes , Humans , Toes/diagnostic imaging , Toes/abnormalities , Male , Radiography , Diagnosis, Differential , Child, Preschool , FemaleSubject(s)
Fingers/abnormalities , Holoprosencephaly , Polydactyly , Toes/abnormalities , Pregnancy , Female , Humans , Holoprosencephaly/diagnostic imaging , Holoprosencephaly/genetics , Pregnancy Trimester, First , Trisomy 13 Syndrome/diagnosis , Polydactyly/diagnosis , Polydactyly/genetics , Trisomy/diagnosis , Trisomy/genetics , Ultrasonography, PrenatalABSTRACT
Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected individuals usually present with skeletal abnormalities such as metatarsal hypoplasia of the third and fourth toes and early-onset arthropathy, as well as hearing loss. To date, no ophthalmic findings have been reported in patients with Czech dysplasia even though COL2A1 has been implicated in other ocular conditions such as type 1 Stickler syndrome. For the first time, we report the ocular findings in four families with Czech dysplasia, including type 1 vitreous anomaly, hypoplastic vitreous, retinal tears, and significant refractive error. These novel ocular findings expand the phenotype associated with Czech dysplasia and may aid clinicians as an additional diagnostic feature. Patients with congenital abnormalities of vitreous gel architecture have an increased risk of retinal detachment, and as such, patients may benefit from prophylaxis. Considering that many of the patients did not report any ocular symptoms, vitreous phenotyping is of key importance in identifying the need for counseling with regard to prophylaxis.
Subject(s)
Arthritis , Connective Tissue Diseases , Hearing Loss, Sensorineural , Osteochondrodysplasias , Retinal Detachment , Toes/abnormalities , Humans , Connective Tissue Diseases/genetics , Hearing Loss, Sensorineural/genetics , Retinal Detachment/diagnosis , Retinal Detachment/genetics , Arthritis/genetics , Mutation , Collagen Type II/genetics , PedigreeABSTRACT
BACKGROUND: Postaxial polydactyly of the foot is one of the most common congenital abnormalities. A wide forefoot, short toe, and lateral joint deviation are associated with aesthetic and functional outcomes. This study used the Watanabe-Fujita classification to characterize the preoperative and postoperative skeletal morphology of postaxial polydactyly of the foot. METHODS: This retrospective study included 42 patients (51 feet) with postaxial polydactyly treated at age 1 year. Radiographs taken at ages 0 and 3 to 4 years were used for morphologic analysis. The length of the reconstructed toe, the distance between the fourth and fifth metatarsals, and joint deviation angles were measured. The length measures were standardized using the length of the third metatarsal. Morphologic characteristics were compared based on the Watanabe-Fujita classification at ages 0 and 3 to 4 years. Long-term outcomes were also evaluated in patients followed up for longer than 6 years. RESULTS: The fifth-ray proximal phalangeal subtype had the shortest toe length both at ages 0 and 3 to 4 years. Proximal phalangeal joint lateral deviation improved postoperatively in 78% of patients with the fifth-ray middle phalangeal subtype, regardless of reconstruction type. There was no significant change in proximal phalangeal joint deviation between ages 3 to 4 years and 7 years or older. A residual metatarsal was associated with lateral metatarsophalangeal joint deviation and a wide intermetatarsal distance, and required revision surgery. CONCLUSIONS: Morphologic changes of postaxial polydactyly of the foot were successfully characterized using the Watanabe-Fujita classification. This classification could be useful for planning surgical strategies and anticipating morphologic outcomes. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.
Subject(s)
Foot , Polydactyly , Humans , Infant , Retrospective Studies , Polydactyly/diagnostic imaging , Polydactyly/surgery , Toes/diagnostic imaging , Toes/surgery , Toes/abnormalitiesSubject(s)
Epidermolysis Bullosa Simplex , Humans , Male , Epidermolysis Bullosa Simplex/complications , Epidermolysis Bullosa Simplex/genetics , Epidermolysis Bullosa Simplex/diagnosis , Epidermolysis Bullosa Simplex/pathology , Growth Disorders/etiology , Growth Disorders/diagnosis , Growth Disorders/complications , Toes/abnormalities , InfantSubject(s)
Humans , Infant , Skin Diseases/drug therapy , Skin Diseases/etiology , Pigmentation , Coleoptera , Toes/abnormalitiesSubject(s)
Humans , Male , Infant , Lip/abnormalities , Vascular Malformations , Face/abnormalities , Toes/abnormalitiesABSTRACT
BACKGROUND: Simple postaxial polydactyly (type B) is a common congenital hand malformation often treated by suture or clip ligation. METHODS: We present a case series of patients with simple postaxial polydactyly treated by surgical excision using local anesthesia in an office setting. RESULTS: The procedure was performed on 78 digits in 48 children with a mean age of 10.2 weeks. There were no intraoperative or early postoperative complications. A follow-up by phone interview was performed at an average of 3.2 years postoperatively. All patients were reported to be pain-free and have normal function without a perceived range of motion deficits. All parents selected the highest level of satisfaction regarding cosmetic outcomes and overall experience with the procedure. CONCLUSIONS: These results demonstrate that an office-based surgical excision is a safe, effective, and economical treatment option and has developed into our standard of care for this common condition.
Subject(s)
Polydactyly , Child , Humans , Infant , Polydactyly/surgery , Fingers/abnormalities , Toes/abnormalities , HandABSTRACT
BACKGROUND: The central polydactyly of the foot is a rare congenital disorder, and its characteristics are not well known. This study aims to investigate its disease concept. METHODS: We obtained the medical records of patients who were treated surgically for central polydactyly of the foot at our hospital during a 32-year period from 1990 to 2021 retrospectively. We compared our clinical data with other case series reports to investigate the characteristics of this disorder further. RESULTS: There were 22 patients (13 males and 9 females) included in our case series. Unilateral and bilateral involvements were observed in 19 (right side: 6 patients; left side: 13 patients) and 3 patients, respectively. The second toe is the commonest duplicated toe (observed in 19 toes). 19 patients had distally duplicated toes (with normal metatarsal bone). Proximally duplicated toes were observed in only two patients. CONCLUSIONS: The incidence of central polydactyly of the foot is almost equal among male and female, and bilateral involvements are few. As this abnormality is rarely reported, further investigations are needed to clarify the clinical presentation of central polydactyly of the foot.
Subject(s)
Metatarsal Bones , Polydactyly , Humans , Male , Female , Retrospective Studies , Foot , Polydactyly/surgery , Toes/surgery , Toes/abnormalitiesABSTRACT
OBJECTIVE: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). STUDY DESIGN: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. RESULTS: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: without fistula/imperforate anus (18%), perineal fistula (36%), rectourethral fistula (4%), rectovesical fistula (2%), vestibular fistula (4%), cloaca (4%), and rare ARMs (31%). Groups showed differences in anthropometric data, Krickenbeck anatomy, and intensive care burden. Additional major congenital abnormalities were prevalent specific of VATER/VACTERL spectrum (vertebral/anorectal/cardiac/tracheoesophageal/renal/limb defects), but also Hirschsprung disease was found in 3/20 biopsies (15%). The most frequent minor abnormality was a single umbilical artery. In group 3, we identified four de novo microdeletions at 8p23.2, 8q13.3, Xp22.31-p22.2, Xq28, four de novo microduplications at 1p36.32, 6p24.1-p23, 13q14.11, 15q11.2, one microdeletion at 9q33.1 inherited from the affected mother, one microdeletion at 7q35 inherited from the unaffected father, one structurally uncharacterized rearrangement involving 9p23-q34.3. Thus, we attributed the Xq28 deletion with inactivated FAM58A gene in one girl to the X-linked dominant STAR syndrome (toe syndactyly-telecanthus-anogenital/renal malformations). CONCLUSIONS: Despite the great physical and social burden on ARM patients and their parents, in the majority of cases, the etiology is largely unknown and attributed to be multifactorial. In females, STAR syndrome should be part of the differential diagnosis. Associated malformations of other organ systems interact in outcome parameters.
Subject(s)
Anorectal Malformations , Hypertelorism , Syndactyly , Urogenital Abnormalities , Anal Canal/abnormalities , Anorectal Malformations/genetics , Female , Humans , Infant, Newborn , Kidney/abnormalities , Male , Toes/abnormalitiesABSTRACT
Polydactyly is a human inherited disorder caused by to anomalies in the genes involved in autopod development. The disorder segregates in both autosomal recessive and autosomal dominant form. Up till now, eleven genes causing non-syndromic polydactyly, have been identified. This includes ZNF141, GLI3, ZRS in LMBR1, MIPOL1, PITX1, IQCE, GLI1, FMA92A1, KIAA0825, STKLD1, and DACH1. In the present study, we have investigated a large consanguineous family of Pakistani origin segregating polydactyly in autosomal recessive pattern. Clinical examination of affected individuals revealed a non-syndromic form of the disorder. Genetic study based on homozygosity mapping and Sanger sequencing using DNA of the normal and affected individuals found a novel homozygous missense sequence variant [NM_005269.3: c.1133C > T, p.(Ser378Leu)] in the GLI1 located on human chromosome 12q13.3. In silico analysis of the identified variant showed a significant change in the secondary structure of the mutant protein that affects its function. Findings of the present study expand the mutation spectrum of the GLI1. In addition, the study will help in prevention of the disorder through carrier testing and bringing awareness among families affected with polydactyly.
Subject(s)
Polydactyly , Consanguinity , Fingers/abnormalities , Humans , Pedigree , Phenotype , Polydactyly/complications , Polydactyly/genetics , Toes/abnormalities , Zinc Finger Protein GLI1/geneticsABSTRACT
The term symbrachydactyly has been used for the phenotype of two or three short fingers or toes, hypoplasia of the middle and distal phalanges and variable syndactyly of the affected digits. Some clinicians have extended this diagnosis to include other phenotypes, specifically cleft hand, terminal transverse limb defects, hypoplasia of the thumb and fifth finger with nubbins for fingers 2, 3, and 4 and the hand deformity of the Poland anomaly. A malformations surveillance program can identify enough affected infants to characterize a phenotype. In the Active Malformations Surveillance Program in Boston (1972-2012) among 289,365 births, all infants and fetuses with structural abnormalities were identified from reading the examination findings by the pediatricians and pathologists and the results of diagnostic tests. Liveborn and stillborn infants were included, as well as fetuses from elective terminations because of anomalies identified in prenatal testing. We present the findings in 14 infants, all liveborn, who had symbrachydactyly of one or both hands (n = 12) or feet (n = 2). We suggest restricting the term symbrachydactyly to this single phenotype to improve counseling and to focus future research on identifying the cause(s).
Subject(s)
Finger Phalanges , Hand Deformities, Congenital , Syndactyly , Female , Finger Phalanges/abnormalities , Fingers/abnormalities , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Humans , Pregnancy , Syndactyly/diagnosis , Syndactyly/genetics , Toes/abnormalitiesABSTRACT
Postaxial polydactyly (PAP) is a common abnormality characterized by extra digits on hands and/or feet. To date, sequence variants in seven genes have been identified in non-syndromic PAP. In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal ultrasonography. To better evaluate fetal prognosis, SNP array analysis and trio whole-exome sequencing (trio-WES) were performed to identify the underlying etiology. Although SNP array analysis revealed no abnormality, trio-WES identified compound heterozygous splice site variants in KIAA0825, c.-1-2A>T and c.2247-2A>G in intron 2 and intron 12, respectively. These two splice site variants were absent in control databases and were predicted to influence splicing by in silico analysis. To confirm the potential pathogenicity of the variants, in vitro splicing assays using minigene and RNA from peripheral leukocytes of the heterozygous parents were conducted. Minigene and RT-PCR assays demonstrated that the c.-1-2A>T variant led to the loss of the initiation codon, and the c.2247-2A>G variant mainly resulted in exon 13 skipping. Prenatal WES and subsequent functional studies are important approaches for defining the genetic etiology of fetuses with PAPA and are also essential for accurate genetic counseling and decision making. Taken together, this study expands the spectrum of KIAA0825 variations in PAPA patients and increases the knowledge of the molecular consequences of KIAA0825 splice site variants.
Subject(s)
Intracellular Signaling Peptides and Proteins/genetics , Polydactyly , Female , Fetus/diagnostic imaging , Fingers/abnormalities , Humans , Polydactyly/diagnostic imaging , Polydactyly/genetics , Pregnancy , Toes/abnormalitiesABSTRACT
Post-axial polydactyly (PAP) is almost always treated by ablation of the sixth ray since the ulnar duplicate is universally inadequate and the radial one is normal. We report a patient with bilateral PAP with skeletal abnormalities in both radial and ulnar duplicates. This unusual presentation cannot be classified according to previous classifications of PAP and precludes simple ablation as the treatment of choice. Both hands of this patient were treated by on-top plasty with excellent functional and cosmetic results. A modification of the previous classifications is recommended at the end of this article. Level of Evidence: Level V (Therapeutic).