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craniosynostosis and dental anomalies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis and dental anomalies

MONDO:0013615

Also known as:Kreiborg-Pakistani syndromeCRSDAcraniosynostosis-dental anomalies

Overview

GeneticsAutosomal recessive · IL11RA (chr 9)

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: Delayed eruption of teeth, Sagittal craniosynostosis, Coronal craniosynostosis, and Broad hallux and others; and very common findings: Hypoplasia of the maxilla and Brachycephaly. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	8	Lambdoidal craniosynostosis, Sagittal craniosynostosis, Coronal craniosynostosis

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.

IL11RA encodes interleukin 11 receptor subunit alpha (422 aa). Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. Highest expression in Artery Aorta (80.6 TPM) and Cervix Ectocervix (74.6 TPM).

Craniosynostosis and dental anomalies is caused by mutations in the IL11RA gene on chromosome 9.

IL11RA is classified as a druggable target (Druggable Genome and External Side Of Plasma Membrane categories) with score 26.1.

Diagnosis

Genetic testing for IL11RA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for craniosynostosis and dental anomalies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 2 very common features, 25 common features.

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 craniosynostosis and dental anomalies.

122 publications have been identified in PubMed for craniosynostosis and dental anomalies. Research spans Review / Meta-Analysis (44%), Epidemiology / Natural History (22%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	47	44%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614188

Orphanet

European rare disease database

Orphanet:284149

GARD

Genetic and Rare Diseases Info Center

GARD:17309

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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Kisho

craniosynostosis and dental anomalies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

craniosynostosis and dental anomalies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications