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.



  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.    



  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 :

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  1. Wonderful descriptive article I have to admit I had never heard of this before so I thank you for teaching me something today

  2. 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.

  3. Welcome Steve. :)
    Nd am happy too for the coming back of comments Martin.

  4. I hadn’t heard of this before either. Good information as usual.

  5. great information and very well written

  6. its good information, i think you are the good writter :D

  7. Great information you have shared.. Thanks

  8. Great info shared. Never thought about this until now. Thanks.

  9. There’s much to learn from you! :-)
    Thank you:-)

  10. Thanks for the compliment eaa1118.

  11. very informative

  12. Great information

  13. 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.

  14. 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.

  15. nice piece of information :)

  16. great share thanks

  17. 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!

  18. exactly. we should be thankful to God for his blesssings upon us.

  19. so informative!

  20. 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.

  21. 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!

  22. 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.

  23. Very informative indeed. Thanks for sharing.

  24. Wow, that’s completely new to me. Thanks for the info!

  25. nice article and very informative, god bless and thank you

  26. very informative….

  27. Very important info

  28. Thank you for sharing.

  29. Excellent write up. Much to learn here.

  30. very well presented

  31. thanks for the read friends:)

  32. wow, good article. :)

  33. very useful article ,Abia

  34. Excellent post.

  35. such a useful information

  36. revisit

  37. thanks for the share

  38. Well written. Your article helps us to grow in our understanding of others.

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