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Medicine Dec 2022This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown... (Review)
Review
OBJECTIVE
This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly.
BACKGROUND
There is a frequency of 0.37 to 1.2 per 1000 live births for polydactyly, which is also known as hyperdactyly. It is characterized by the presence of extra fingers. Polydactyly is caused by a failure in limb development, specifically the patterning of the developing limb bud. The phenotypic and genetic variability of polydactyly makes its etiology difficult to understand. Pre-axial polydactyly, central polydactyly (axial), and postaxial polydactyly are all examples of non-syndromic polydactyly (ulnar). An autosomal dominant disorder with varying penetrance that is mostly passed down via limb development patterning abnormalities.
METHOD
A comprehensive search of MEDLINE/PubMed and other databases was followed by an evaluation of the relevant papers, with a particular focus on those published between 2000 and 2022.
RESULTS
Of 747 published article related to Polydactyly from MEDLINE/PubMed search, 43 were from the last 10 years and were the focus of this review.
CONCLUSION
Polydactyly is one of the most frequent congenital hand malformations. PAP is more common than PPD, whereas central polydactyly is very uncommon.
Topics: Humans; Polydactyly; Fingers; Toes
PubMed: 36550802
DOI: 10.1097/MD.0000000000032060 -
World Journal of Orthopedics Jan 2023Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is... (Review)
Review
Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly. According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation. There are several forms of polydactyly, including hand and foot extra digit manifestations. The deformity affects upper limbs with a higher frequency than the lower, and the left foot is more often involved than the right. The treatment is always surgical. Since the clinical presentation is highly diverse, the treatment combines single or multiple surgical operations, depending on the type of polydactyly. The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.
PubMed: 36686282
DOI: 10.5312/wjo.v14.i1.13 -
Current Reviews in Musculoskeletal... Aug 2020To provide a current review of the embryology, classification, evaluation, surgical management, and clinical outcomes related to preaxial polydactyly. (Review)
Review
PURPOSE OF REVIEW
To provide a current review of the embryology, classification, evaluation, surgical management, and clinical outcomes related to preaxial polydactyly.
RECENT FINDINGS
Recent studies include a proposed embryologic link between preaxial polydactyly and other congenital abnormalities, an evaluation of long-term postsurgical outcomes, and an examination of important predictors for postsurgical outcomes. Preaxial polydactyly, while relatively uncommon, is a complex congenital hand abnormality that requires careful preoperative classification and proper surgical intervention timing to yield optimal outcomes.
PubMed: 32472371
DOI: 10.1007/s12178-020-09644-w -
Acta Orthopaedica Feb 2018Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In... (Review)
Review
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, genotype, heredity, and diagnosed syndromes. Results - From the HPO dataset, 21 diseases were related to preaxial polydactyly of the foot. The anatomical groups with the highest phenotypic contribution were lower limb, upper limb, and craniofacial. From our clinical database, we included 76 patients with 9 different diseases, of which 27 had a GLI3 mutation. Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients. Interpretation - Preaxial polydactyly of the foot often presents with other upper and lower limb malformations. In patients with isolated preaxial polydactyly of the foot, referral to a clinical geneticist is not mandatory. In patients with additional malformations, consultation with a clinical geneticist is recommended. When additional limb malformations are present, analysis of GLI3 is most feasible.
Topics: Female; Foot; Foot Deformities, Congenital; Humans; Male; Mutation; Polydactyly
PubMed: 28946786
DOI: 10.1080/17453674.2017.1383097 -
Journal of Medical Genetics Feb 1999Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies,... (Review)
Review
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.
Topics: Abnormalities, Multiple; Anus, Imperforate; Chromosomes, Human, Pair 16; Developmental Disabilities; Diagnosis, Differential; Ear, External; Eye Abnormalities; Female; Genetic Variation; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Male; Phenotype; Polydactyly; Scoliosis; Syndrome; Transcription Factors; Urogenital Abnormalities
PubMed: 10051003
DOI: No ID Found -
Bulletin of the Hospital For Joint... 2013Polydactyly of the hand is a difficult problem and poses a unique challenge for the hand surgeon. The embryology of limb development is complex, leading to a host of... (Review)
Review
Polydactyly of the hand is a difficult problem and poses a unique challenge for the hand surgeon. The embryology of limb development is complex, leading to a host of different phenotypes of polydactyly. Polydactyly can occur in any digit and is described as preaxial, postaxial, and central, based on location. Classification systems exist for each of these locations, which guide treatment options. Surgical treatment needs to address the aesthetic and functional aspect of hand reconstruction. Careful consideration and planning of surgical treatment individualized to each patient is required to obtain the best possible outcome.
Topics: Fingers; Humans; Orthopedic Procedures; Patient Selection; Polydactyly; Recovery of Function; Risk Factors; Treatment Outcome
PubMed: 24032579
DOI: No ID Found -
Developmental Dynamics : An Official... May 2011Limb development is clinically and biologically important. Polydactyly is common and caused by aberrant anterior-posterior patterning. Human disorders that include... (Review)
Review
Limb development is clinically and biologically important. Polydactyly is common and caused by aberrant anterior-posterior patterning. Human disorders that include polydactyly are diverse. To facilitate an understanding of the biology of limb development, cataloging the genes that are mutated in patients with polydactyly would be useful. In 2002, I characterized human phenotypes that included polydactyly. Subsequently, many advances have occurred with refinement of clinical entities and identification of numerous genes. Here, I update human polydactyly entities by phenotype and mutated gene. This survey demonstrates phenotypes with overlapping manifestations, genetic heterogeneity, and distinct phenotypes generated from mutations in single genes. Among 310 clinical entities, 80 are associated with mutations in 99 genes. These results show that knowledge of limb patterning genetics is improving rapidly. Soon, we will have a comprehensive toolkit of genes important for limb development, which will lead to regenerative therapies for limb anomalies.
Topics: Gene Expression Regulation, Developmental; Genetic Heterogeneity; Humans; Mutation; Polydactyly
PubMed: 21445961
DOI: 10.1002/dvdy.22609 -
Orphanet Journal of Rare Diseases Jun 2007Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.... (Review)
Review
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.
Topics: Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Ellis-Van Creveld Syndrome; Female; Humans; Infant; Infant, Newborn; Membrane Proteins; Mutation; Pregnancy; Prenatal Diagnosis; Prognosis; Proteins; Short Rib-Polydactyly Syndrome
PubMed: 17547743
DOI: 10.1186/1750-1172-2-27