Achondroplasia
An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.
Recent Cases of Achondroplasia
Browse recently discussed Achondroplasia cases by specialistsTop Cases of Achondroplasia
Selected by editors, top cases are known for unique problem or best solution
256 Views
, 7 Likes
, 27 Answers
1200 Views
, 16 Likes
, 19 Answers
thanks for the interest, comments and your contribution to this case of achondroplasia.lt has enlightened me.
Top Achondroplasia Doctors on Curofy
Top doctors who continously share their opinions on Achondroplasia
Florence Hospital
Sr Consultant Ophthalmologist
POSTED MORE THAN 1600 OPHTHALMIC ARTICLES TILL DATE
Sangrur
Distt.Immunization Officer
Guru Gobind Singh Govt. Medical College, Faridkot
MBBS,DCH
National Institute of Medical Science
Md Paediatrics
National Institute of Medical Science
MD pediatrics
Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
VSS.MEDICAL COLLEGE & HOSPITALS.
Professor Radiology. 1984 To 1993 Superintendent & Principal. 93 To 96 Director Medical Education.96 To 98.
Patna Medical College.
MD
Trending Diseases
Trending Cases
In your clinical experience and patient exposure, what is the most commonly encountered brain tumor?
Curofy Health Day5 Likes18 Answers- Login to View the image
Quick Brains Quiz Winners of June round 2 Congratulations to all the top performers of Quick Brains Quiz. Keep Participating!
Curofy Quiz2 Likes4 Answers In your clinical observation, which of the following is the most common cause of tooth erosion?
Dental-Insights1 Like2 Answers- Login to View the image
DenTest Quiz Winners of June round 1. Congratulations to all the top performers. Thank you all for your participation. Keep participating!
DenTest1 Like1 Answer - Login to View the image
HomeoQz winners of June round 1. Congratulations to all the top performers. Thank you all for your participation. Keep participating!
Curofy Ayush2 Likes1 Answer
15 Views