Incomplete Syndactyly Research Articles

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

To explore the clinical and genetic characteristics of a Chinese pedigree affected with Multiple synostoses syndrome type 1 (SYNS1). Clinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were carried out for the proband and her parents. The pedigree has comprised of 14 members from three generations, of whom six had manifested hearing loss, with other symptoms including proximal symphalangism, hemicylindrical nose, amblyopia, strabismus, brachydactyly, incomplete syndactyly, which fulfilled the diagnostic criteria for SYNS1. WES had detected no pathogenic single nucleotide variants and insertion-deletion (InDel) in the coding region of the NOG gene, whilst copy number variation (CNV) analysis indicated that there was a heterozygous deletion involving the NOG gene. WGS revealed a heterozygous deletion (54171786_55143998) in 17q22 of the proband. The CNV was classified as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The heterozygous deletion in 17p22 involving the NOG gene probably underlay the pathogenesis of SYNS1 in this pedigree. Above finding has enriched the mutational spectrum of NOG. CNV should be considered when conventional sequencing has failed to detect any pathogenic variants in such patients.

549 Foot Syndactyly: Operative Management, Postoperative Webspace Splinting, and a Retrospective Review of Cases Across 15 Years at a Tertiary Plastics Centre

Abstract Aim Syndactyly of the foot is a common congenital abnormality, with an estimated prevalence of 1 in 2,000. While thought to be more common than hand syndactyly, there is considerably less discussion of foot syndactyly in the literature. We describe our operative approach to foot syndactyly and a postoperative technique for splinting with silicone moulds to reduce webcreep complication. We sought to further characterise the nature of, and postoperative outcomes for, foot syndactyly cases managed at our centre. Method We performed a retrospective analysis of cases of paediatric foot syndactyly managed at our centre over the last 15 years. Results 47 patients (52 primary foot syndactyly repair operations), involving 75 webspaces were identified (80.0% simple syndactyly, 1.3% complex, 18.7% not specified). 54.7% webspaces were incomplete syndactyly (21.3% complete, 24.0% not specified). The second webspace was the most commonly involved (57.3%). Median age of first operation was 47.5 months. Of patients with documented follow-up, 24.1% of webspaces developed a complication. Complications included webcreep (13.8%), keloid (5.2%) and hypertrophic (5.2%) scarring, graft loss (3.4%), infection (3.4%), overgranulation (1.7%), clinodactyly (1.7%), and suture granuloma (1.7%). The most common documented repair technique involved ‘V-shaped’/’triangular’ interdigitating local flaps. There was no difference in webcreep rates between FTSG and STSG repairs. Conclusions Webcreep remains the most common complication of foot syndactyly, and one parents must be suitably informed about. This work adds to a relatively small body of work internationally and describes a simple method to help reduce post-operative contracture.

Epidemiological Characteristics and Role of Connexin-43 in Patients of Syndactyly Attending a Tertiary Care Center in Odisha, India.

Syndactyly is one of the most common hereditary limb malformations. Yet, epidemiological data in our state is not reported. The current study aims to understand the Connexin-43 expression in such patients. A retrospective cohort study was done in the Department of Plastic surgery and Anatomy of All India Institute of Medical Sciences (AIIMS), Bhubaneswar. The study duration was three years, between 2019 and 2022. The total number of cases was 49 and included patients diagnosed with Syndactyly seeking surgical intervention. The demographic details and the personal and disease history were collected, analyzed, and interpreted. Immunohistochemistry study using Connexin-43. Out of the 49 patients, 26 (53.1%) were male, and 23 (46.9%) were female. Thirty nine (79.6%) had syndactyly, and 10 (20.4%) were diagnosed with syndactyly associated with another syndrome. Both complete and incomplete syndactyly was found. Strong membranous positivity of Connexin-43was found in the keratinocytes of the stratum spinosum layer of the epidermis, while the stratum granulosum and stratum basale layer revealed negative staining. Syndactyly is mostly non-familial, sporadic with male preponderance affecting unilaterally and in incomplete form in our geographical location. We found an overt expression of Connexin-43 in these patients' stratum basale.

Mode of inheritance of syndactyly in selected human families in Bahawalnagar, Pakistan

Syndactyly is joining or merging of web in feet and hands digits. It is inherited by autosomal dominant, autosomal recessive, x-linked, and y-linked manner. Its prevalence is around 1 in 2000 live birth. Non-syndromic syndactyly is classified into nine types. In this study, we find out prevalence, percentage, types, and mode of inheritance of syndactyly in families of district Bahawalnagar. The survey was carried out in hospitals, schools, and villages of district Bahawalnagar to find out the patients with congenital syndactyly. Three families with cousin marriages were selected for pedigrees. These families had 2:1 of foot and hand syndactyly. The percentage of complete and incomplete syndactyly was recorded 50% in all families. The mode of inheritance was autosomal dominant and autosomal recessive pattern because of two types of syndactyly type I (SD1) and syndactyly type I-c. In families Bwn1, Bwn2, and Bwn3 the percentage of family members associated with syndactyly was 16%, 9.7%, and 6.89% respectively. It was further noted that all male members of all families were affected with syndactyly. This study finds out the type I (SD1) and type I-c syndactyly in the studied sample population.

Four Unusual Cases of Congenital Forelimb Malformations in Dogs.

Simple SummaryCongenital limb defects are sporadically encountered in dogs during normal clinical practice. Literature concerning their diagnosis and management in canine species is poor. Sometimes, the diagnosis and description of congenital limb abnormalities are complicated by the concurrent presence of different malformations in the same limb and the lack of widely accepted classification schemes. In order to improve the knowledge about congenital limb anomalies in dogs, this report describes the clinical and radiographic findings in four dogs affected by unusual congenital forelimb defects, underlying also the importance of reviewing current terminology.Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them. In one case, a deformity involving both the radial and ulnar side of the distal limb was observed. Based on clinical and radiological evaluations, a diagnosis of postaxial terminal longitudinal ulnar hemimelia was performed. The term ectrodactyly was used to refer different malformations characterized by skin and soft tissue separation of the distal forelimb observed in two dogs. Simple complete uncomplicated syndactyly of the right forelimb, and complex incomplete uncomplicated syndactyly of the left forelimb were diagnosed in the fourth case. To the authors’ knowledge, ectrodactyly and simple complete uncomplicated syndactyly are very uncommon anomalies in companion animals and have been rarely documented. Moreover, postaxial terminal longitudinal ulnar hemimelia has still not been reported in dogs.

Un cas de syndactylie bilatérale complexe, complète et compliquée

We report the case of a 21-year-old female patient, born with a bilateral hand deformity consisting of syndactyly of the 3rd and 4th rays on each side, without any other associated congenital anomaly. In order to correct the functional and aesthetic discomfort caused by this malformation, she consulted an orthopedic surgeon. A hand X-ray (A, B) was performed to determine the type of syndactyly and any associated bony hand anomalies. It revealed a complex, complete and complicated bilateral syndactyly with, on both the right and the left, a bifidity of the phalanges of the 4th ray forming a synostosis with the 3rd ray. The rest of the bones and joints of the hand are normal. Syndactyly is one of the most common congenital anomalies of the extremities. It is a defect in finger differentiation, defined as a fusion of adjacent fingers. Syndactyly can be seen in the upper and lower extremities, and up to 50% of cases are bilateral. To avoid the morbidity associated with this condition, it must be diagnosed and treated promptly. Syndactyly is described as simple or complex, depending on the presence (complex) or absence (simple) of bony fusion. Complete syndactyly extends to the fingertips with inclusion of the nail folds, while incomplete syndactyly does not extend the full length of the finger. Complicated syndactyly is defined by the presence of interposed accessory phalanges or abnormal bones.

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

Single-Stage Separation of 3- and 4-Finger Incomplete Simple Syndactyly With Contiguous Gull Wing Flaps: A Technique to Minimize or Avoid Skin Grafting

Staged separation of 3- and 4-finger syndactyly is commonly performed owing to concerns about vascular supply to the central digit and availability of flap skin. We performed single-stage separation of patients with incomplete syndactyly of multiple digits with adjacent contiguous dorsal gullwing flaps and avoided skin grafts in the majority of cases. Seventy-four webs of 31 patients with more than 2-finger incomplete syndactyly were included. Median age at surgical separation was 12 months (range, 5-123 months). All cases were incomplete syndactyly that did not extend to the fingernail level, with no bonyinvolvement. A dorsal gullwing flap was used for all cases, which reconstructed the interdigital webs and partly covered the lateral side of the proximal phalanx. The technique relies on perfusion of the flap through the dorsal metacarpal artery perforator to aid flap mobility and double radial and ulnar z-plasties on each side of the flap to aid flap advancement. Skin grafts were needed if there were any remaining skin defects. In 30 of 31 cases, a single-stage procedure was accomplished. One case was staged owing to abnormal digital arterial anatomy found on exploration. No skin graft was required in 21 out of 31 patients (67.7%). Median postoperative follow-up was 12 months (range, 6-36 months). All finger web depths were normal or slightly deepened. One-stage separation for 3- and 4-finger syndactyly with a dorsal gullwing flap is feasible and safe as long as at least 1 proper digital artery is preserved in each finger. The need for skin grafting is minimized. Therapeutic IV.

The Use of Acellular Dermal Matrix in Treatment of Mitten Hand in Epidermolysis Bullosa Patients

Dear Sir, Epidermolysis Bullosa (EB) is a group of rare disorders, in which patients frequently present with fragile skin and mucosal surfaces that blister following minor trauma [1]. Hand deformities include web space adduction contractures, pseudo-syndactyly, and flexion contractures of the joints, known altogether as the mitten-hand deformity [2]. Reconstruction of the defects created by releasing of the pseudo-syndactylys or just the flexion contractures of the hands requires use of skin grafts; which make the surgical treatment troublesome for two main reasons: the donor skin graft areas become potential full thickness non-healing regions, and the skin graft harvested will not be a healthy skin, with a defective dermoepidermal structure that will eventually result in recurrence of the syndactyly with any minimal trauma. We present here an 8-year-old female who referred to our clinic for bilateral pseudo-syndactylys of the hands. The medical history revealed diagnosed recessive dystrophic EB that has been managed meanwhile only with palliative topical medication. Physical examination showed multiple bullae and vesicles that were spread generally all over the body with the hands and the legs involved most severely. The left hand revealed adduction contracture of the first web space, incomplete syndactyly of all the web spaces and flexion contractures in all the digits, with the fingernails absent. The right hand revealed incomplete syndactylys of all the webs, with joint contractures of the thumb MCP and IP as well as flexion contractures in all fingers. The surgical treatment was planned for the non-dominant left hand first, which required definite use of skin grafts, for coverage of full thickness skin defects created by the contracture release. The possibility of unsuccessful graft take was discussed with the patient in addition to the possibility of non-healing graft donor sites. The alternative use of acellular dermal matrix without further skin grafting was suggested and the treatment plan consisting of AlloDerm-GBR one-step repair was presented and accepted by the patient. The patient was operated under general anesthesia without application of a tourniquet to prevent trauma. The syndactylys and contractures were released full-thickness and the defects were covered with two pieces of 0.5–0.9 mm thickness sheets of AlloDerm GBR. (Figure 1a) No autologous skin grafts were used. The hands were kept in the appropriate splinted position for 15 days and the dressing was renewed every 3 days. An atraumatic night splint was then used for 2 months to prevent recurrence. The postoperative results revealed epithelization onto the AlloDerm grafts within 2 weeks with the exception of a few areas that were epithelized in 3 weeks (Fig. 1b). Fig. 1 a Intraoperative view showing release of the contractures and application of Alloderm in areas of skin defect and b 60 days postoperatively showing the Allograft take The defects created while releasing the hand pseudo-syndactylys and contractures require use of split-thickness or full-thickness skin grafts, which may not always be possible in these patients because of donor-site morbidity or availability [3, 4]. The use of acellular dermal allograft in EB patients not only makes the need for autologous skin graft redundant, but can also be of great assistance in epithelization. This is of major importance in these patients for which the autologous graft donor site can become a reconstructive challenge on its own, as it is in our case with bilateral hand and body involvement. Recurrence usually occurs within 2 to 5 years in patients with EB. Meticulous skin care and the use of well-fitted splints are essential in the treatment plan of these patients. The transfer of a dermal support, throughout a healthy tissue creating a “thick” new dermis via the acellular dermal matrix can hence possibly prevent recurrence of the pseudo-syndactyly of the hand in the long term. We believe the use of acellular dermal allograft in dystrophic EB patients with hand deformities should be included in the routine surgical treatment protocol of EB, especially in cases with bilateral involvement.

Abstract: Congenital Syndactyly Reconstruction of 391 Webspaces

INTRODUCTION: Congenital syndactyly occurs in isolated and syndromic forms; method of reconstruction must be tailored to the type of syndactyly and postoperative function will depend on the preoperative state of the hand in addition to the method of reconstruction selected. We present the 18 year experience of surgical reconstruction of congenital syndactyly in all of its forms at a high throughput children’s hospital. METHODS: All patients who underwent webspace reconstruction for congenital syndactyly by the senior author over an 18 year period were included in this study. Data included demographics, medical history, anatomy and severity of syndactyly, surgical technique, follow up and need for revision. Patients who underwent hand surgery prior to their first clinic visit were excluded from outcomes analysis. Logistic regression was performed to identify factors that were associated with postoperative wound complications and revision. RESULTS: Reconstruction was performed for 182 patients with 391 webspaces; 21 patients were referred from outside surgeons and excluded from outcomes analysis. Twenty-eight patients had complications over 32 webspaces. The most common complications were web creep (n=10), scar contracture (n=6), and flexion contracture (n=5). Dorsal VY advancement flap was the most common method for reconstructing simple incomplete syndactyly and was associated with decreased risk of complication in the 3rd webspace (OR=0.427 p=0.006) while triangular flaps and skin graft was associated with increased complications (OR=2.75, p <0.001). Presence of a complicated hand anomaly did not significantly increase the likelihood of complications (p=0.21). CONCLUSION: Syndactyly is a common congenital hand condition that occurs as both an isolated anomaly and as part of several syndromic diagnoses. We describe the largest retrospective cohort of congenital syndactyly reconstruction to date and discuss important technical and clinical considerations to minimize postoperative complications and revisional surgery.

Congenital Syndactyly Reconstruction of 391 Webspaces: An 18 Year Experience: Level 4 Evidence

There is no financial information to disclose. Congenital syndactyly occurs in isolated and syndromic forms; method of reconstruction must be tailored to the type of syndactyly, and postoperative function will depend on the pre-operative state of the hand in addition to the method of reconstruction selected. All patients who underwent webspace reconstruction for congenital syndactyly by the senior author over an 18 year period were included in this study. Data included demographics, medical history, anatomy and severity of syndactyly, surgical technique, follow-up and need for revision. Patients who underwent hand surgery prior to their first clinic visit were excluded from outcomes analysis. Logistic regression was performed to identify factors that were associated with postoperative wound complications and revision. Reconstruction was performed for 182 patients with 391 webspaces; 21 patients were referred from outside surgeons and excluded from analysis. Twenty-six patients had complications (16%), of which 13 (8%) required revision. The most common complications were web creep (n = 10), scar contracture (n = 6), and flexion contracture (n = 5). Dorsal VY advancement flap was the most common method for reconstructing simple incomplete syndactyly and was associated with decreased risk of complication in the 3rd webspace (OR = 0.427, P = 0.006), while triangular flaps and skin graft were associated with increased complications (OR = 2.75, P < 0.001). Presence of a complicated hand anomaly did not significantly increase the likelihood of complications (P = 0.21). •Syndactyly is a common congenital hand condition that occurs as both an isolated anomaly and as part of several syndromic diagnoses.•We describe the largest retrospective cohort of congenital syndactyly reconstruction to date and discuss important technical and clinical considerations to minimize postoperative complications and revisional surgery.

Subcutaneous pedicle V–Y flap for release of incomplete congenital syndactyly

Various procedures for correction of congenital syndactyly of hand or foot have been described. For incomplete syndactyly, some of the reported techniques use only local flaps from surrounding tissues. A novel technique for the correction of incomplete syndactyly, using a dorsal triangular flap and two palmar small flaps, is described in this article. A triangular flap is first marked on the affected web space. The size of the flap should be the same as the unaffected side or other web space. Then a straight line is marked from the proximal apex of the triangle to the level of the metacarpophalangeal (MP) joint. After full skin incision, minimal peripheral undermining is done, and the triangular flap is transposed proximally, as in the Y-V advancement procedure, and sutured. Then two incisions are made from the distal part of the flap, transposing small flaps as in the five-flap method, and closed primarily. We treated ten cases of congenital syndactyly of the hand or foot. We were able to correct a good web space without skin grafting in all cases. The design for our technique is simple, and the technique can be performed easily. The operation can be performed in a short time, the blood supply of the flap is preserved, the flap has a wide range of motion, and a deep and smooth dorsal slope is produced. This technique is an attractive alternative to previously reported methods for syndactyly correction.

Syndactyly Web Space Reconstruction Using the Tapered M-to-V Flap: A Single-Surgeon, 30-Year Experience

To describe the technique and results of the tapered M-to-V flap for syndactyly web space construction. We reviewed a single-surgeon, single-institution experience of all syndactyly reconstructions performed between 1982 and 2013. Demographic data and patient characteristics were recorded. Complications included flap loss, graft loss, web creep, infection, restricted range of motion, and digit deviation. A total of 138 web spaces were reconstructed in 93 patients. There were 89 primary congenital hand and 32 foot syndactylies. Four patients had an acquired simple incomplete syndactyly and 13 patients had secondary reconstructions. The complication rate was 14%. The most common complication was web creep resulting from partial skin graft loss (12 web spaces; 9%). There were no total flap losses. Univariate analysis revealed no factor to be predictive ofan elevated complication rate. Average follow-up was 2.6 years (range, 6 mo to 26 y). The tapered M-to-V flap proved to be a reliable and versatile technique for web space reconstruction, offering several advantages over the standard rectangular flap method of repair, such as ease of intraoperative adjustment, a z-plasty at the palmodigital crease to minimize scar contracture, and better color match. Therapeutic IV.

PO-0919 Tissue Expansion Technique For Treatment Of Congenital Hand Syndactyly

Background and aim Syndactyly is one of the most common congenital anomaly of the hand in children. A great number of syndactyly release techniques have been described over last two centuries. The aim of our study is outcome assessment of congenital syndactyly surgery using temporarily tissue expansion without skin grafts. Methods Our study included children with congenital hand syndactyly treated by operative technique with temporarily tissue expansion of the dorsal hand skin and local flaps, without skin grafting in period from 2008–2013. In all cases surgery was performed under general anaesthesia. According to the Weber descriptive method functional outcome at the end of follow-up period was categorised as good, fair and bad. Results Twenty children (13 males, 7 females) aged from 6 months to 6 years (mean 23 months) were operated by described technique. Fourteen cases had complete, while six had incomplete syndactyly mostly involving the third web. Associated anomalies were diagnosed in twelve patients. Follow up period ranged from 6 months to 4 years. Functional results were: good in twelve patients, fair in seven and bad in one case. Conclusion Surgical procedure with temporarily tissue expansion of the dorsal hand skin and local flaps, without skin grafting is effective method of congenital syndactyly treatment in children with good functional and aesthetic results.

Correction of Syndactyly Using a Dorsal Separated V-Y Advancement Flap and a Volar Triangular Flap in Adults

Skin grafts and local flaps are conventional methods of repair for congenital syndactyly, but the results obtained are not always as functional and aesthetic as desired and frequently leave postoperative scars and residual syndactyly. In this article, we describe a new surgical technique for web reconstruction in the correction of simple, incomplete syndactyly. The technique consists of a dorsal separated V-Y advancement flap and a volar triangular flap to cover the newly created web space, thus avoiding skin graft in this space. In all, 15 web spaces in 10 patients were treated using this method. A follow-up period of 6 months to 2 years showed neither recurrence of the deformity nor web creep of any degree. The technique is rapid, safe, easily performed, and reproducible and requires a single surgical procedure. It uses donor tissue identical in color, texture, and thickness, which renders acceptable cosmesis in cases of simple, incomplete syndactyly, therefore, avoiding the use of skin grafts and resulting postoperative scar contracture in the web space.

The Modified V-Y Dorsal Metacarpal Flap for Repair of Syndactyly without Skin Graft

Syndactyly repairs that use full-thickness skin grafts risk graft-related complications. The dorsal V-Y advancement flap offers a method of syndactyly release that can eliminate the need for full-thickness skin grafts in some cases of simple syndactyly. A retrospective case series of all patients undergoing syndactyly release without skin grafting performed by the senior author (B.C.) between 1998 and 2007 was conducted. All outpatient and inpatient charts were reviewed for pertinent patient demographics and clinical outcomes, including the incidence of web creep, hypertrophic scarring, flexion contracture, infection, angulation deformity, limited range of motion, ischemia, and need for reoperation. A total of 28 syndactylies were included in the study: 25 simple incomplete and three simple complete. Mean follow-up time was 4.2 years. Mean operative time was 68 minutes. Two patients (7.1 percent) experienced postoperative complications; both were corrected by subsequent revision. The dorsal V-Y advancement flap without skin graft is an effective method of repair primarily in simple incomplete syndactyly.

A Long-Term Follow-Up and Improvement of the Repair of Incomplete Syndactyly by Web Flap on a Subcutaneous Tissue Pedicle

A Long-Term Follow-Up and Improvement of the Repair of Incomplete Syndactyly by Web Flap on a Subcutaneous Tissue Pedicle

Advantages of open treatment for syndactyly of the foot: Defining its indications

For the repair of syndactyly of the foot, skin grafting is often used to close the skin defect, but open treatment is not common. However, with grafting, an additional scar at the donor site and patchwork-like scar at the recipient site are inevitable. Our aim was to describe the process of epithelialisation and define the indications for open treatment of syndactyly of the foot. The open treatment was used on 16 webs. The texture of epithelialised surface resembled volar skin; the visible scar was mainly at the dorsal edge; and web creep occurred predominantly on the volar side and resembled the natural slope of the commissure. Open treatment is better than skin grafting because of better match of texture without a patchwork-like scar, and it is indicated in cases of simple incomplete syndactyly of the foot that extends proximal to the distal interphalangeal joint.

A Modification of the Chinese Island Flap Technique for Simple Incomplete Syndactyly Release

This paper presents a modification of the technique described by Yao et al. using a vascular island flap based on a dorsal digital vessel, which allows transfer of the web proximally and retains the integrity of the web skin. The technique was used in nine patients, aged from 1 to 15 years at operation, with nine incomplete simple syndactylies. The results were assessed at a mean of 36 (range 5-60) months after surgery. No vascular compromise or web creep was noted. This technique enables transfer of web skin proximally in cases of simple, incomplete syndactyly, avoids the presence of scars in the web space and does not require skin grafts.

Surgical treatment of simple syndactylism with secondary deep digital flexor tendon contracture in a Basset Hound

A five-month-old, female Basset Hound was presented for lameness associated with a fused 3rd and 4th digital pad on the left hind limb (simple incomplete syndactyly), and secondary contracture of the deep digital flexure tendon of the 3rd and 4th digit. An onychectomy of the third phalanx of the third and fourth digits was performed. Following the operation, the dog gained good use of the affected limb for one month until intermittent non-weight bearing lameness developed. A second surgery was performed six months later, partially removing the second phalanx of digits three and four. Follow-up reports indicate that the dog is doing well and is without lameness. This is the first report of deep digital flexor tendon contracture and surgical treatment of this complication in canine simple syndactylism.