Type II syndactyly or synpolydactyly.

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.

Functional classification and mutation analysis of a synpolydactyly kindred

The aim of the present study was to analyze a congenital syndactyly/polydactyly kindred and propose a new functional classification method of clinical significance. The modes of inheritance and mutational mechanisms were also determined using genetic analyses. Hand and foot anatomy and functions were measured using photographic images, X-ray imaging and grip ability tests. Genetic analysis comp...

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting t...

The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements

We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly, syndactyly and brachydactyly and is caused by the expansion of a polyalanine encoding repeat in the 5' region of the Hoxd13 gene. We performed a detailed phenotypic and functional analysis of spdh/spdh embry...

Webbed fingers.

W ebbing of the digits, or syndactyly, is not caused by the fingers sticking together in the womb; rather, it is caused by failure, during the sixth to eighth weeks of intrauterine life, of the usual longitudinal interdigital necrosis that normally separates the fingers. This " webbing " is the most common abnormality of the newborn hand. It happens either as an isolated anomaly or as part of a...