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A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype
Author
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-16
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused by HOXD13 mutations.
The condition is rare and is known for its phenotypic heterogeneity.
In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndactyly, a more severe degree of brachydactyly, and the frequent loss of the normal tubular shape of the metacarpals/metatarsals.
Due to the phenotypic heterogeneity and the phenotypic overlap with other types of syndactyly, no pathognomonic feature has been described for the homozygous phenotype of SPD1.
In the current communication, the author reviews the literature on the phenotypes of SPD1 in homozygous patients.
The review documents that not all homozygous patients show a severe hand phenotype.
The review also defines the “relatively long and medially deviated big toe with/without cupping of the forefoot” as a pathognomonic feature in the phenotype.
Illustration of this feature is done through a demonstrative clinical report in a multigeneration family with SPD1 and HOXD13 polyalanine repeat expansion.
Finally, the pathogenesis of the clinical features is reviewed.
American Psychological Association (APA)
al-Qattan, Mohammad M.. 2020. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. BioMed Research International،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1132287
Modern Language Association (MLA)
al-Qattan, Mohammad M.. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. BioMed Research International No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1132287
American Medical Association (AMA)
al-Qattan, Mohammad M.. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe withwithout Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1132287
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1132287