Syndactyly News and Research

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Syndactyly, an infrequent condition in human beings, is a state where fingers or toes are joined together. The existence of such condition is normal (connected only by skin) in terrestrial mammals such as kangaroos, dogs, and cats, in many water-habitat birds, like ducks, and in amphibians like frogs. However, the similar condition is rare in human beings and it is even rarer for the fingers or toes to be connected by bones. In only 1 among around 3000 children, this condition occurs.

Study contributes to better understanding of rare KAT6A syndrome

A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide.

26 Feb 2020

Study demonstrates viability of gene editing strategy for recessive dystrophic epidermolysis bullosa

A group of researchers from the Centro de Investigación Biomédica en Red de Enfermedades Raras, Universidad Carlos III de Madrid, the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, and the Instituto de Investigación Sanitaria Fundación Jiménez Díaz have led a study which demonstrates the viability of a gene editing strategy for recessive dystrophic epidermolysis bullosa (also known as butterfly chilidren) with the tool CRISPR/Cas9 in preclinical models with this disease.

8 Apr 2019

Smoking during pregnancy increases risk of having a child with missing fingers and toes

In the largest study of its kind, plastic surgeons found smoking during pregnancy significantly elevates the risk of having a child with excess, webbed or missing fingers and toes, according to the January issue of Plastic and Reconstructive Surgery, the official medical journal of the American Society of Plastic Surgeons (ASPS).

6 Jan 2006

Researchers pinpoint genetic cause of Timothy syndrome

Howard Hughes Medical Institute researchers have pinpointed the genetic cause of a devastating but rare childhood disorder, called Timothy syndrome, which underlies a form of severe cardiac arrhythmia.

4 Oct 2004