lethal recessive chondrodysplasia
Findings
No curated finding names lethal recessive chondrodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
Definition from the Mondo Disease Ontology (MONDO:0015425), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Accelerated skeletal maturationHPOHP:0005616
- Obligate (100% of cases)
- Flared elbow metaphysesHPOHP:0003950
- Obligate (100% of cases)
- Generalized osteosclerosisHPOHP:0005789
- Obligate (100% of cases)
- Limb undergrowthHPOHP:0009826
- Obligate (100% of cases)
- Narrow chestHPOHP:0000774
- Obligate (100% of cases)
- Short long boneHPOHP:0003026
- Obligate (100% of cases)
- MicrognathiaHPOHP:0000347
Where it sits
- A kind of
Other names
2 names
Resolves to: lethal recessive chondrodysplasia
- Also called
- chondrodysplasia lethal recessiveMaroteaux-Stanescu-Cousin syndrome