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Start free with EleplanBlomstrand lethal chondrodysplasia
ORPHA:50945Malformation syndrome
Also called BLC · BOCD · Blomstrand chondrodysplasia · Blomstrand osteochondrodysplasia · Chondrodysplasia, Blomstrand type
What it is
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
28- Abnormality of epiphysis morphology
- Accelerated skeletal maturation
- Aplastic clavicles
- Broad clavicles
- Cataract
- Depressed nasal bridge
- Distal shortening of limbs
- Flared metaphysis
- Increased bone mineral density
- Lethal skeletal dysplasia
- Low-set ears
- Malar flattening
- Mesomelia
- Metaphyseal cupping
- Micrognathia
- Narrow chest
- Neonatal short-limb short stature
- Platyspondyly
- Polyhydramnios
- Premature birth
- Proptosis
- Protuberant abdomen
- Pulmonary hypoplasia
- Rhizomelia
- Short nose
- Short ribs
- Short thorax
- Telecanthus
Common30–79%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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