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spondyloepiphyseal dysplasia, Kimberley type (SEDK) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia, Kimberley type

MONDO:0012019

Also known as:SEDK

Overview

A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.

GeneticsAutosomal dominant · ACAN (chr 15)

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: Delayed skeletal maturation, Genu varum, Platyspondyly, and Flat capital femoral epiphysis and 3 more.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Delayed skeletal maturation, Flat capital femoral epiphysis

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.

ACAN encodes aggrecan (2,530 aa). This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. Highest expression in Artery Tibial (34.4 TPM) and Artery Aorta (21.7 TPM).

Spondyloepiphyseal dysplasia, Kimberley type is associated with mutations in the ACAN gene on chromosome 15.

ACAN is classified as a druggable target (Druggable Genome category) with score 0.0.

74 pathogenic variants reported in ACAN in ClinVar.

Diagnosis

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

Prognosis

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

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608361

Orphanet

European rare disease database

Orphanet:93283

GARD

Genetic and Rare Diseases Info Center

GARD:16814

Questions for Your Care Team

→Should I pursue genetic testing for ACAN, and what would the results mean for my family?
→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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spondyloepiphyseal dysplasia, Kimberley type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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