Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis

Cassim, Afraah; Hettiarachchi, Dineshani; Dissanayake, Vajira H W

doi:10.1186/s13023-022-02339-0

Cited by 8 publications

(9 citation statements)

References 87 publications

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“…The underlying causes for such changes in SD prevalence are unclear. Genetic variants such as mutations in HOXD13, FBLN1, LMBR1, FGFR2, BHLHA9, GLI3, and chromosomal aberrations can contribute to the development of SD [ 23 , 24 ]. Recent studies indicate a positive association between maternal exposure to smoking, medication, and ambient air pollutants and offspring SD [ 25 – 28 ].…”

Section: Discussionmentioning

confidence: 99%

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

Chen,

Li,

et al. 2023

BMC Pregnancy Childbirth

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Background Little is known about the epidemiologic features of syndactyly (SD) in Chinese newborns. Methods Using 2007–2019 data from the Chinese Birth Defects Monitoring Network, we conducted a prevalence analysis on overall, isolated and associated syndactyly according to birth year, maternal age, maternal residence, geographic region and infant sex, with special interests in time trends, perinatal outcomes and clinical phenotypes. Results A total of 13,611 SD cases were identified among 24,157,719 births in the study period, yielding the prevalence of 5.63, 4.66 and 0.97 per 10,000 for overall, isolated, and associated SD, respectively. The prevalence of each type of SD exhibited an upward trend over the period. The prevalence of overall SD varied significantly by maternal residence (urban vs. rural, 6.69/10,000 vs. 4.35/10,000), maternal age (< 20 years, 5.43/10,000; 20–24 years, 5.03/10,000; 25–29 year, 5.65/10,000; 30–34 years, 6.07/10,000; ≥ 35 years, 5.76/10,000), geographic region (central, 5.07/10,000; east, 6.75/10,000; west, 5.12/10,000), and infant sex (male vs. female, 6.28/10,000 vs. 4.86/10,000). Newborns with associated SD were more likely to be born prematurely (29.2% vs. 10.6%) or with low birthweight (30.5% vs.9.8%) than those with isolated SD. The bilaterally, and unilaterally affected cases accounted for 18.4% and 76.7%, respectively. The feet were more frequently involved (64.3%) in those bilaterally affected cases, while right side preference (right vs left: 53.8% vs 46.2%) and upper limbs preference (hand vs foot: 50.8% vs 48.0%) were found in unilateral cases. Conclusions The prevalence of syndactyly in China is on the rise and notably higher than that in other Asian and European countries, highlighting the importance of investigating the etiology, epidemiology, and clinical implications of this condition in the Chinese population.

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Section: Discussionmentioning

confidence: 99%

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

Chen,

Li,

et al. 2023

BMC Pregnancy Childbirth

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“…Syndactyly occurs when there is a defect in apoptosis of cells that make up the web space around week six of development, which is when the web space would usually regress [11,12]. Defects typically involve the canonical wingless-type (WNT) pathway, but other pathways have also been implicated in this process [13]. Apoptosis of the web space occurs in a distal to proximal manner, which explains the high occurrence of simple incomplete syndactyly [11].…”

Section: Embryologymentioning

confidence: 99%

“…This explains why different generations may have vastly different presentations and severities of syndactyly [10]. Hypotheses of acquiring spontaneous genetic mutations include maternal smoking, poor maternal nutrition, and/or consuming excessive amounts of meat and eggs during pregnancy, low socioeconomic status, and mothers 40 years or older [10,13].…”

Section: Embryologymentioning

confidence: 99%

“…A dorsal incision is made on the nail, and lateral digital flaps are made on the distal pulp [20]. The flaps are taken from the distal pulp and will help reconstruct either side of the digit [4,13]. Some complications of using the Buck-Gramcko technique include a lower aesthetic outcome (due to a bulkylooking fingertip), and in some cases (especially those that were syndromic), necrosis.…”

Section: Nail Flap and Fingertip Reconstructionmentioning

confidence: 99%

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Syndactyly in the Pediatric Population: A Review of the Literature

Mahindroo¹,

Tabaie²

2023

Cureus

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Syndactyly is one of the most common congenital upper extremity deformities. Syndactyly can be described as either simple, involving just the skin and soft tissue, or complex, involving the phalanges. Additionally, syndactyly can be categorized as complete, involving the entire digit (including the nail fold), or incomplete, which does not involve the nail fold. Multiple familial or spontaneous genetic abnormalities can cause syndactyly, and these mutations typically involve the canonical wingless-type (WNT) pathway. Surgical repair of syndactyly is typically done between six to 18 months of age, depending on the type of syndactyly. Regardless of the classification of the syndactyly, the repair is performed before school-going age (except in the case of extremely mild or rare, extremely complex syndactyly).One or more imaging modalities are used to aid the surgeon in deciding the surgical approach for the syndactyly repair. The surgical plan must be clearly communicated with parents to manage expectations of aesthetics and function of the digits post-surgery. In brief, a syndactyly release surgery involves the creation of the web space using a geometrical design of the surgeon's choice, defatting of finger flaps, separation of the digits, and closure with absorbable sutures. However, the approach may vary depending on the patient.A "best" approach for rectifying the difference in surface area of separated versus fused digits has not yet been determined. While this was typically done using a skin graft, the use of alternative methods (most notably, using a synthetic dermal substitute or not using a graft at all and allowing the skin to heal with secondary intention) has been on the rise given the undesirable side effects of a graft. Less commonly, an external fixator can be used to expand soft tissue and skin. In the case of complete syndactyly, the Buck-Gramcko technique is most commonly used for nail flap reconstruction. Complications of the surgery include contracture, web creep, and the need for a second surgery. Thus, parents must be counseled in recognizing signs of complications.

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“…Syndactyly can occur as an isolated malformation or as part of a syndrome. HOXD13, FBLN1, GJA1, LMBR1, LRP4, GREM, FGF16, and BHLHA9 genes are incriminated for the disorder, when mutated[ 38 ]. Syndactyly type I presents as fusion between the middle and ring fingers.…”

Section: Syndactylymentioning

confidence: 99%

Genetics of congenital anomalies of the hand

Kyriazis¹,

Κollia²,

Grivea³

et al. 2022

World J Orthop

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Congenital anomalies of the hand are malformations occurring during the development of the human limb, and present as isolated disorders or as a part of a syndrome. During the last years, molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations. Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity. At present, several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them. Different and new high throughput methods have been introduced for the identification of the gene mutations. In the current editorial, we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics, including the genes related to the disorder. This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.

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Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis

Cited by 8 publications

References 87 publications

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

Syndactyly in the Pediatric Population: A Review of the Literature

Genetics of congenital anomalies of the hand

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