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kyphomelic dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

kyphomelic dysplasia

MONDO:0008881

Also known as:bowing, congenital, with short bonescongenital bowing with short bones

Overview

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.

GeneticsAutosomal recessive · CCN2 (chr 6)

ResearchLimited published research (5 articles)

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: Tibial bowing, Flared metaphysis, Micromelia, and Femoral bowing and 24 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Femoral bowing, Limitation of joint mobility, Short femur
Head and neck

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CCN2 encodes cellular communication network factor 2 (349 aa). Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Highest expression in Artery Aorta (2,043 TPM) and Artery Coronary (1,105 TPM).

Kyphomelic dysplasia is associated with mutations in the CCN2 gene on chromosome 6.

The CCN2 protein participates in Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathway.

CCN2 is classified as a druggable target (Druggable Genome category) with score 4.0.

Diagnosis

Genetic testing for CCN2 is available. Testing is considered confirmatory for diagnosis.

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 kyphomelic dysplasia.

5 publications have been identified in PubMed for kyphomelic dysplasia. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Terayama S (2025). [PMID: 40051960](https://pubmed.ncbi.nlm.nih.gov/40051960/). *Cureus*. [Case Report / Case Series]
Singh S (2025). [PMID: 39506047](https://pubmed.ncbi.nlm.nih.gov/39506047/). *European journal of human genetics : EJHG*. [Gene Therapy / Novel Therapeutics]
Gu SL (2025). [PMID: 41121704](https://pubmed.ncbi.nlm.nih.gov/41121704/). *Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics*. [Review / Meta-Analysis]
Pattani N (2025). [PMID: 40250984](https://pubmed.ncbi.nlm.nih.gov/40250984/). *Journal of medical genetics*. [Epidemiology / Natural History]
Jacob P (2025). [PMID: 39706863](https://pubmed.ncbi.nlm.nih.gov/39706863/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Oct 3, 2026, 11:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211350

Orphanet

European rare disease database

Orphanet:1801

GARD

Genetic and Rare Diseases Info Center

GARD:10149

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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kyphomelic dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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