BBC NEWS Americas Africa Europe Middle East South Asia Asia Pacific Arabic Spanish Russian Chinese Welsh
BBCi CATEGORIES   TV   RADIO   COMMUNICATE   WHERE I LIVE   INDEX    SEARCH 

BBC NEWS
 You are in: Health
Front Page 
World 
UK 
UK Politics 
Business 
Sci/Tech 
Health 
Background Briefings 
Medical notes 
Education 
Entertainment 
Talking Point 
In Depth 
AudioVideo 


Commonwealth Games 2002

BBC Sport

BBC Weather

SERVICES 
Sunday, 5 August, 2001, 23:39 GMT 00:39 UK
Gene 'found for disfiguring condition'
hand malformation
OFDs can cause hand and foot malformations
Scientists may have found the gene causing disorders which leave babies with malformed hands, feet and faces.

Oral-facial-digital (OFD) syndromes affect only girl babies - affected male foetuses always miscarry.

And the most common form - OFD1 - also means patients develop cysts in the kidney, which can have fatal consequences.

Dr Sally Feather, leading researchers at the Institute of Child Health, has discovered the genetic defect which appears to cause OFD.

Now the team has received a 128,000 grant from charity Action Research to fund further research into the gene.


Accurate diagnosis is crucial. This will be helped considerably by the recent discovery of the gene

Dr Sally Feather, Institute of Child Health
It could lead to genetic testing and counselling for families who may be carrying it.

It could also mean that the different varieties of OFD - which have very different medical needs - could be diagnosed accurately.

Dr Feather said: "We are extremely pleased to be given this funding as it provides an opportunity to discover more about this important clinical disorder, which can cause extreme defects.

Hard to diagnose

"Knowledge of the function of the gene will be of considerable benefit in understanding how resulting malformations occur.

"Diagnosing OFD is not easy, as there are more than eight different forms and it can be difficult to distinguish between them.

"In addition, there are a number of other syndromes which have similar features.

"However, the medical complications that can occur may be very different, meaning accurate diagnosis is crucial. This will be helped considerably by the recent discovery of the gene."

The team at the institute has been looking into a number of genes which cause hereditary disorders.

Action Research's director of campaigns and communications, John Grounds, said: "As many as one or two babies out of every hundred born will have a disease which they have inherited from one or other of their parents.

"In order to improve the outlook for these babies and enhance their support and care, it is vital we try to identify and understand the genetic factors of these disorders."

See also:

12 Oct 00 | Health
Genetic test first for UK
21 Sep 00 | Health
Two-day test for birth defects
Internet links:


The BBC is not responsible for the content of external internet sites

Links to more Health stories are at the foot of the page.


E-mail this story to a friend

Links to more Health stories