Carpenter syndrome
Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia.
Disease Alternative Name
Top Carpenter syndrome Doctors on Curofy
Top doctors who continously share their opinions on Carpenter syndrome
General Hospital Kanakapur
Md Pediatrics
MD Pediatrics
pediatrics
Radiologist
District Hospital
SN MEDICAL COLLEGE,
DMRD
Attached To Charitable Organizations As Honorary Holistic Health Consultant
HOLISTIC HEALTH CONSULTANT PRACTISING COMPLEMENTARY& INTEGERATED MEDICINE Especially EBH..Evidence Based HOMOEOPATHY Since 1984 *****************************************************A Ph.D Thesis Guide & Assessor
M.D..FF.HOM, D.A.c..D.Sc.
SHANTI MEMORIAL HOSPITAL
CONSULTANT PEDIATRICIAN MD,DNB
IPGME&R
MD
Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
Trending Diseases
Trending Cases
While childhood immunization has made remarkable progress, adult vaccination remains overlooked in many parts of India. In your opinion, what is the biggest barrier to increasing adult vaccination rates in India?
Doc Insights3 Likes13 Answers- Login to View the image
A survey revealed more than 95% of vaccine preventable diseases (VPD) associated adult deaths have been reported in India. Pneumonia accounts for 39% (146/374) and meningitis for 24.3% (91/374) of invasive pneumococcal disease (IPD), causing 38,811 confirmed cases and 2,266 deaths in 2017. Insurance Information Bureau of India also stated that “certain infectious and parasitic diseases” was the top insurance claim category in 2016-17. In light of this, it’s clear: Controlling VPDs in adults through timely vaccination is crucial. What’s your take on adult vaccination in India? Should India be doing more to integrate it into routine healthcare and national health programs?
Curofy Health Day2 Likes9 Answers - Login to View the image
Quick Brains Quiz - 27th April 2025 Topic - Case Based Quiz Check how quickly can you solve these questions using your clinical knowledge.
Curofy Quiz0 Like0 Answer - Login to View the image
Check out the answers of Quick Brains Quiz. Quiz posted on - 27th April 2025 Topic - Case Based Quiz.
Curofy Quiz0 Like0 Answer