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dyssegmental dysplasia, Rolland-Desbuquois type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dyssegmental dysplasia, Rolland-Desbuquois type

MONDO:0009139

Also known as:Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois typeAnisospondylic camptomicromelic dwarfism Rolland-Desbuquois typeDdrd

Overview

GeneticsAutosomal recessive

Newborn ScreeningAll 50 states + 3 territories (Citrullinemia Type I)

ResearchLimited published research (1 article)

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: Severe short stature, Micromelia, Metaphyseal widening, and Limitation of joint mobility and 26 more.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Limitation of joint mobility, Short long bone, Broad long bones

Diagnosis

Dyssegmental dysplasia, Rolland-Desbuquois type is included in newborn screening programs (Citrullinemia Type I) in all 50 states and 3 territories.

Prognosis

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 dyssegmental dysplasia, Rolland-Desbuquois type.

1 publication has been identified in PubMed for dyssegmental dysplasia, Rolland-Desbuquois type. Research spans Case Report / Case Series (100%).

Recent Publications

Farshadyeganeh P (2024). [PMID: 38424183](https://pubmed.ncbi.nlm.nih.gov/38424183/). *J Hum Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:224400

Orphanet

European rare disease database

Orphanet:156731

GARD

Genetic and Rare Diseases Info Center

GARD:9810

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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dyssegmental dysplasia, Rolland-Desbuquois type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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