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lethal recessive chondrodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal recessive chondrodysplasia

MONDO:0015425

Also known as:Maroteaux-Stanescu-Cousin syndromechondrodysplasia lethal recessive

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Narrow chest, Short long bone, Flared elbow metaphyses, and Accelerated skeletal maturation and others; and very common findings: Micrognathia and Polyhydramnios. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Short long bone, Accelerated skeletal maturation, Generalized osteosclerosis

Diagnosis

Biomarker and diagnostic research for lethal recessive chondrodysplasia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 2 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lethal recessive chondrodysplasia.

141 publications have been identified in PubMed for lethal recessive chondrodysplasia. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	94	67%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1423

GARD

Genetic and Rare Diseases Info Center

GARD:3399

Questions for Your Care Team

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lethal recessive chondrodysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lethal recessive chondrodysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications