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spondyloepimetaphyseal dysplasia, Krakow type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Krakow type

MONDO:0032571

Also known as:Immunoosseous Dysplasia, Krakow TypeSEMDK

Overview

GeneticsAutosomal recessive · SIK3 (chr 11)

OnsetINFANTILE

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: Rhizomelia, Brachydactyly, Elevated circulating alkaline phosphatase concentration, and Decreased serum insulin-like growth factor 1 and others; and common findings: Seizure, Hydrocephalus, Delayed ability to sit, and Patent ductus arteriosus and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Hydrocephalus, Delayed speech and language development

Genetic Landscape

SIK3 function has not been fully characterized.

Spondyloepimetaphyseal dysplasia, Krakow type is associated with mutations in the SIK3 gene on chromosome 11.

Diagnosis

Genetic testing for SIK3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 27 always present features, 10 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618162

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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spondyloepimetaphyseal dysplasia, Krakow type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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