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campomelia, Cumming type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

campomelia, Cumming type

MONDO:0008896

Also known as:Cumming syndromecampomelia Cumming typecampomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys

Overview

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

GeneticsAutosomal recessive

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: Short stature, Polysplenia, Bowing of the long bones, and Pancreatic cysts and 4 more.

Organ System	Phenotype Count	Example Features
Digestive system	2	Pancreatic cysts, Polycystic liver disease
Growth and development

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 campomelia, Cumming type.

1 publication has been identified in PubMed for campomelia, Cumming type. Research spans Case Report / Case Series (100%).

Recent Publications

Chen Z (2025). [PMID: 40552176](https://pubmed.ncbi.nlm.nih.gov/40552176/). *Front Med (Lausanne)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 8:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211890

Orphanet

European rare disease database

Orphanet:1318

GARD

Genetic and Rare Diseases Info Center

GARD:1061

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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campomelia, Cumming type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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