Blomstrand lethal chondrodysplasia
What is Blomstrand lethal chondrodysplasia?
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Other condition names
- BLC
- BOCD
- Blomstrand chondrodysplasia
- Blomstrand osteochondrodysplasia
- Chondrodysplasia, Blomstrand type
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Antenatal
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.