login
Become a member
Quick Registration
Full Registration Benefits -
Free Homepages for Doctors
Free Homepages for Hospitals
Free Homepages for Medical Conference
Free Homepages for NGO's
Personal Health Record Creation
Access to all Medical Slides
Access to all Jobs & Products Sale
| Disease Info Index | ||||||||||||||||||||||||||
|
|
Birth Defect - Genetic
Page Options
Birth Defects - Genetic | |
Achondroplasia |
|
Text 
|
Greek: a-'lack of' , chondros -'cartilage' , plasia ,- 'molding'
In normal individuals, the FGFR3 gene has a suppressive effect on the development of bones.In case of a mutation, these receptor genes work in an uncontrolled manner.Mitosis is promoted,while cell diffrentiation is hampered due to the enhanced functioning of the FGFR3 gene.This causes insufficient development and premature ossification of bones, leading to the typical cranio-facial and spinal abnormalities resulting in dwarfism. Some of the clinical features of an achondroplastic dwarf include the following characteristics-  The head is unusually large . Their trunk is of normal size while their extremities are rather short. Male achondroplastic dwarfs have an average height of 4 feet and 3.8 inches,while females have a height of 4 feet and 0.6 inches. They are often bow-legged and obese.Children display delayed milestones. Depression is very common in these individuals. There are restrictions in reproduction among these individuals due to several factors, like small pelvic size, restricted ovarian stimulation, anesthetic problems, presence of harmful genes and assortive matingThese individuals are different from the hormonally deficient dwarfs, who are well propotioned. The incidence of occurrence of this genetic defect is 1 in 25,000 individuals. Surprisingly, those individuals who survive through the first year after birth grow to become healthy adults with normal intelligence. The mortality rate in these individuals is double that in the general population. Studies in this subject show that there is a correlation between paternal age and the birth of a child with Achondroplasia, as there are several studies, which confirm the presence of the mutant gene on the paternal chromosome. Diagnosis is easily carried out based on the characteristic phenotype. X-ray and molecular biology techniques, like RFLP, help to confirm the diagnosis. Treatment through new techniques, like the ‘Distraction Osteogenesis’ otherwise known as ‘Ilizarov technique’, is being researched whereby a few inches can be added to a person’s height. Growth hormone therapy and gene therapy are other options that are being considered. |
Latest Publication and Research on Birth Defect - Genetic - Updated on 12/05/2011
Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot? - Published by PubMed
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). - Published by PubMed
The neurology of carbonic anhydrase type II deficiency syndrome. - Published by PubMed
Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome. - Published by PubMed
Microtia: Epidemiology and genetics. - Published by PubMed
Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot? - Published by PubMed
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). - Published by PubMed
The neurology of carbonic anhydrase type II deficiency syndrome. - Published by PubMed
Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome. - Published by PubMed
Microtia: Epidemiology and genetics. - Published by PubMed
| Share it! |  |
 |
 |
 |
 |
 |
 |
|
|
Comment & Contribute
|
Posted by:
honnet
Posted on: 03/16/2011 The Content/ remarks were helpful. From http://www.hyderabadonnet.com
Reply |
Forward
|
Medwonders Health Network
| Citing this Health Article | ||||||
|
||||||
| News on Birth Defect - Genetic |
| * Chances of Birth Defects With Assisted Reproductive Technologies |
| * Hike In Birth Defects Due To Assisted Reproduction |
| * Scientists Discover Reason Behind Chromosome Number of Sperm and Egg |
| * Scientists Unveil The Cause Behind Birth Defects |
| * Study Says Pregnant Diabetics More Prone to Birth Defects |
| Total News Item 163 |
Are you a member of Facebook? Become a fan of Medindia and get breaking news delivered to your Facebook page.
