Classifications in Brief: The Wassel Classification for Radial Polydactyly

Manske, M. Claire; Kennedy, Colin D.; Huang, Jerry I.

doi:10.1007/s11999-016-5068-9

Cited by 39 publications

(34 citation statements)

References 23 publications

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“…1a). The left thumbs of affected members II-11 and IV-1 showed duplication of the distal phalanx, typical of PPD I and Wassel type II according to Wassel's classification system 19 (Fig. 1b).…”

Section: Ppd I Phenotypes In the Index Familymentioning

confidence: 99%

“…PPD I was diagnosed based on family history, physical examination, and X-ray examination and was classified according to the criteria. 2,19 DNA samples were extracted from peripheral blood using QIAamp DNA blood mini kits (Qiagen, Germany). The study was approved by the First Affiliated Hospital Medical and Animal Ethics Committee of Sun Yat-sen University (MEC-2015-76).…”

Section: Patient Informationmentioning

confidence: 99%

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A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

Xiaoming

Zhou

et al. 2020

Genetics in Medicine

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Purpose: Preaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I-IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types. However, the genes responsible for PPD I and the underlying mechanisms are unknown. Methods: A rare large four-generation family with isolated PPD I was subjected to genome-wide genotyping and sequence analysis. In vitro and in vivo functional studies were performed in Caco-2 cells, 293T cells, and a knockin transgenic mouse model. Results: A novel g.101779T>A (reference sequence: NG_009240.2; position 446 of the ZRS) variant segregates with all PPD I-affected individuals. The knockin mouse with this ZRS variant exhibited PPD I phenotype accompanying ectopic and excess expression of Shh. We confirmed that HnRNP K can bind the ZRS and SHH promoters. The ZRS mutant enhanced the binding affinity for HnRNP K and upregulated SHH expression. Conclusion: Our results identify the first PPD I disease-causing variant. The variant leading to PPD I may be associated with enhancing SHH expression mediated by HnRNP K. This study adds to the ZRS-associated syndromes classification system for PPD and clarifies the underlying molecular mechanisms.

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Section: Ppd I Phenotypes In the Index Familymentioning

confidence: 99%

Section: Patient Informationmentioning

confidence: 99%

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

Xiaoming

Zhou

et al. 2020

Genetics in Medicine

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“…It is considered a sign of "good luck" in many cultures especially in the Indian subcontinent with parents refusing surgical correction. It is more common in the Caucasians with an incidence of 0.08e1.4 per 1000 live births 11 and cases are usually unilateral and sporadic. Though originally grouped as a duplication in the IFSSH classification, 12 it is now grouped under failure of axis formation/differentiation:hand plate in the OMT classification.…”

Section: Duplication Of the Thumbmentioning

confidence: 99%

Congenital thumb differences- current concepts

Thomas¹,

Pallapati²

2020

Journal of Clinical Orthopaedics and Trauma

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Anomalies of the thumb development are not uncommon and may be associated with a number of syndromes also. These anomalies range from total absence to duplication. Reconstructive surgery for the creation of an opposable thumb is the most rewarding aspect of Hand Surgery and also the most challenging. Classification systems have been modified for better description. A number of procedures have been introduced to improve the functionality of the hand in anomalies and age old concepts are undergoing a metamorphosis to further this. A brief description of the common conditions and their treatment are discussed here and highlighted by selected clinical cases.

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“…Preaxial polydactyly refers to polydactyly where the additional digit grows toward the first digit of the hand (radial side; thumb) or foot (medially). The incidence of PPD is reported as high as 10/300 births ( Deng et al, 2015 ; Manske et al, 2017 ). Wassel (1969) classified PPD into seven types that is very useful for hand surgeons, helping them to manage thumb duplication (Supplementary Figure S1 ).…”

Section: Preaxial Polydactyly (Ppd)mentioning

confidence: 99%

Clinical Genetics of Polydactyly: An Updated Review

et al. 2018

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Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types, i.e.; preaxial polydactyly (radial), central polydactyly (axial), and postaxial polydactyly (ulnar). Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1. In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis.

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Classifications in Brief: The Wassel Classification for Radial Polydactyly

Cited by 39 publications

References 23 publications

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

Congenital thumb differences- current concepts

Clinical Genetics of Polydactyly: An Updated Review

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