A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype
| Autor: | Mohammad M. Al-Qattan |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Review Article 030105 genetics & heredity Biology General Biochemistry Genetics and Molecular Biology 03 medical and health sciences Pathognomonic medicine Humans Syndactyly Child Homeodomain Proteins General Immunology and Microbiology Foot Genetic heterogeneity Homozygote Brachydactyly General Medicine Anatomy Hand medicine.disease Phenotype Synpolydactyly 030104 developmental biology HOXD13 Mutation Medicine Hallux Female Trinucleotide repeat expansion Transcription Factors |
| Zdroj: | BioMed Research International BioMed Research International, Vol 2020 (2020) |
| ISSN: | 2314-6141 2314-6133 |
| DOI: | 10.1155/2020/2067186 |
| Popis: | Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused byHOXD13mutations. 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 andHOXD13polyalanine repeat expansion. Finally, the pathogenesis of the clinical features is reviewed. |
| Databáze: | OpenAIRE |
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