chondrodysplasia Blomstrand type
Findings
No curated finding names chondrodysplasia Blomstrand type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Definition from the Mondo Disease Ontology (MONDO:0008970), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Stillbirth · Antenatal onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Fetal ascitesHPOHP:0001791
- 2 of 2 reported patients
- Hydrops fetalisHPOHP:0001789
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Preductal coarctation of the aortaHPOHP:0005151
Show the remaining 28
- Distal shortening of limbsHPOHP:0006402
- Very frequent (80% to 99% of cases)
- Flared metaphysisHPOHP:0003015
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- Lethal skeletal dysplasiaHPOHP:0005716
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTH1RHGNC:9608
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: chondrodysplasia Blomstrand type
- Also called
- BLCBlomstrand chondrodysplasiaBlomstrand lethal chondrodysplasiaBlomstrand osteochondrodysplasiaBlomstrand type chondrodysplasiaBOCDchondrodysplasia, Blomstrand type