Polydactyly News and Research

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Researchers identify new mechanism that causes hereditary diseases

Researchers from Charité – Universitätsmedizin Berlin, the Max Planck Institute for Molecular Genetics (MPIMG), and the University Hospital Schleswig-Holstein (UKSH) have investigated in detail how BPTA syndrome, an extremely rare hereditary condition, arises.

9 Feb 2023

Study identifies a gene that plays an important role in embryo development

A new study co-led by a Cedars-Sinai investigator identified a gene that plays an important role in a biological pathway involved in embryo development.

24 May 2022

New phenotype of LRP6 mutation reported for the first time in patients with tooth agenesis

A group led by Prof. Han Dong of Peking University School of Stomatology reported for the first time hand preaxial polydactyly in patients with tooth agenesis carrying a previously unknown mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

29 Nov 2021

Standard technique for removing extra fingers often prone to painful complications

Polydactyly, or having an extra finger, is fairly common, occurring in 1 in every 1,000 people--among African-Americans, 1 in 150. Children with supernumerary digits are usually treated within the first months of infancy.

13 Nov 2017

USC study close to finding gene involved in cleft lip and palate

A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.

22 Mar 2017

Genetic mutations may be key culprit behind ciliopathies, study shows

Scientists have identified genetic mutations that appear to be a key culprit behind a suite of birth defects called ciliopathies, which affect an estimated 1 in 1,000 births.

11 May 2016

Perisylvian polymicrogyria gene found

Researchers have identified the genetic basis for bilateral perisylvian polymicrogyria, the most common form of regional polymicrogyria.

4 Nov 2015

Loyola’s hand surgeons see more patients with thumb arthritis

As baby boomers age, orthopedic surgeons are seeing more and more patients, especially women, who suffer from debilitating arthritis of the thumb.

4 Apr 2012

London scientist hopes to improve diagnosis for Jeune syndrome

A London scientist is hoping a new study funded by children's charity Action Medical Research, will help to improve diagnosis and work towards new treatments for a rare, incurable genetic disorder called Jeune syndrome.

7 Sep 2011

New insight into human ciliopathy

In the September 1st issue of G&D, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases.

4 Aug 2009

Discovery of gene linked to short-rib polydactyly syndrome

After 12 years of searching, UCLA scientists have tracked down the first known gene mutation responsible for a heartbreaking disorder that kills newborn babies.

1 Apr 2009

New role discovered for cilia

Johns Hopkins researchers and colleagues have found a previously unrecognized role for tiny hair-like cell structures known as cilia: They help form our sense of touch.

22 Oct 2007

Cilia research may help find cure for inherited eye diseases

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases.

23 Jun 2007

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