Article
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.
BioMed research international - 1 Jan 2020
Al-Qattan Mohammad M
Abstract excerpt
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...
Topics
- Adult
- Child
- Female
- Foot
- Hallux
- Hand
- Homeodomain Proteins
- Homozygote
- Humans
- Male
- Mutation
- Phenotype
- Syndactyly
- Transcription Factors