Achondroplasia Related to Advanced Paternal Age!
Achondroplasia, Neurofibromatosis, Apert’s syndrome and Marfan’s syndrome are the congenital chromosomal abnormalities related to increased paternal age.
Achondroplasia, Neurofibromatosis, Aport’s syndrome and Marfan’s syndrome are the congenital chromosomal abnormalities related to increased paternal age.
Marfan’s Syndrome:
It is a genetic connective tissue disease in which individuals tend to have large limbs and fingers. Heart valve defects and aortic abnormalities are also commonly seen in these patients.
Neurofibromatosis:
In this disorder there are multiple benign nerve tissue tumors which compress the nerves and cause various symptoms. There may be small mobile masses under the skin, cafe au lait spots due to impaired function of melanocytes.
Alports syndrome:
Alports syndrome is a congenital neuropathy associated with advanced paternal age ( >35 years). Patients kidney problems along with occular (eye) and auditory (hearing) lesions often presenting with blood in urine and deafness.
Achondroplasia:
New mutation due to advanced paternal age : in 75% cases
Old mutation transmitted from one or both parents : in 25 % cases
The cause of this abnormality is a mutant change in FGFR3 (Fibroblast growth factor receptor 3) leading to abnormal cartilage formation. Children with Achondroplasia have a retarded bone growth in their limbs with normal sized head and trunk. Specific features of achondroplasia are:
1-Short stature (dwarfism)
2-Average adult height 51.5inches (males) and 48.4 inches (females)
3- Short limbs
Under such circumstances where both the parents have achondroplasia, their offspring recieves a mutant gene from both the parents. Such a child is very unlikely to survive beyond a few month after birth.
Down’s syndrome related is to advanced maternal age. You can read more about this syndrome on :
http://healthmad.com/conditions-and-diseases/downs-syndrome-related-to-maternal-old-age/
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stevetheblogger | Jul 19, 2012 | Reply
Wonderful descriptive article I have to admit I had never heard of this before so I thank you for teaching me something today
Best
Wishes
stevetheblogger
Martin Kloess | Jul 19, 2012 | Reply
Comments are back! Now it is our turn to show Triond how grateful we are. Comment and pass this message on. Thank you for helping make this happen.
drabiakhan | Jul 20, 2012 | Reply
Welcome Steve.
Nd am happy too for the coming back of comments Martin.
smokychristine | Jul 20, 2012 | Reply
I hadn’t heard of this before either. Good information as usual.
sabanawaz | Jul 20, 2012 | Reply
great information and very well written
AfrizalH | Jul 20, 2012 | Reply
its good information, i think you are the good writter
Tommilano | Jul 20, 2012 | Reply
Great information you have shared.. Thanks
RamenNight | Jul 20, 2012 | Reply
Great info shared. Never thought about this until now. Thanks.
eaa1118 | Jul 20, 2012 | Reply
There’s much to learn from you!
Thank you:-)
drabiakhan | Jul 21, 2012 | Reply
Thanks for the compliment eaa1118.
Dreamy777 | Jul 21, 2012 | Reply
very informative
aheed411 | Jul 21, 2012 | Reply
Great information
Jswana | Jul 21, 2012 | Reply
I used to be a Medical Transcriber for Heme/Onc Pediatrics. Though we didn’t cover these syndromes I have heard of this one. It was when I worked in Child Development did I learn of these types of syndromes. Some were challenged. Thanks for sharing needed information.
drabiakhan | Jul 22, 2012 | Reply
thanks jswana. i feel that its the necessity of time to share such information in order to avoid any possible chromosomal abnormalities in the future generations.
singhjay2901 | Jul 22, 2012 | Reply
nice piece of information
elee | Jul 22, 2012 | Reply
great share thanks
gaby7 | Jul 22, 2012 | Reply
When you look at your kids or even yourself and you see that you are almost perfect, do you have time to thank your God? There are many deforming conditions out there and to see that we were spared of them is something we dont need to take for granted!
drabiakhan | Jul 23, 2012 | Reply
exactly. we should be thankful to God for his blesssings upon us.
ayesha1986 | Jul 24, 2012 | Reply
so informative!
ayesha1986 | Jul 24, 2012 | Reply
Dr Rabia can you plz tell me which heart valves are involved in Marfans syndrome as an uncle of mine is found to have this disease.
drabiakhan | Jul 25, 2012 | Reply
well in case of heart valves dehiscence of prosthetic mitral valve can occur otherwise the most common heart defect caused by marfan’s is aortic dissection.patient complains of sudden racing of heart and a murmur is also found.i hope u got it. thanks!
ayesha1986 | Jul 25, 2012 | Reply
thanks for reply. i was waiting for it. and ya he is diagnosed with a heart murmur which is may b abnormal sounding of the heart i think. anyways thanks.
Abdul Sabour Ayoubi | Jul 25, 2012 | Reply
Very informative indeed. Thanks for sharing.
aimoore2012 | Jul 25, 2012 | Reply
Wow, that’s completely new to me. Thanks for the info!
toyibd | Jul 25, 2012 | Reply
nice article and very informative, god bless and thank you
drelayaraja | Jul 26, 2012 | Reply
very informative….
JoniJones | Jul 27, 2012 | Reply
Very important info
Chris Bailie | Jul 27, 2012 | Reply
Thank you for sharing.
papaleng | Jul 27, 2012 | Reply
Excellent write up. Much to learn here.
Muhammad Fajar Marthias | Jul 29, 2012 | Reply
very well presented
drabiakhan | Jul 30, 2012 | Reply
thanks for the read friends:)
erwin8008 | Jul 31, 2012 | Reply
wow, good article.
girishpuri | Jul 31, 2012 | Reply
very useful article ,Abia
realityspeaks | Aug 2, 2012 | Reply
Excellent post.
Esmé.Dia | Aug 3, 2012 | Reply
such a useful information
girishpuri | Aug 6, 2012 | Reply
revisit
avissado | Aug 6, 2012 | Reply
thanks for the share
Mary Naylor | Aug 25, 2012 | Reply
Well written. Your article helps us to grow in our understanding of others.