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craniosynostosis, Adelaide type (CRSA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis, Adelaide type

MONDO:0010903

Also known as:CRSA

Overview

GeneticsAutosomal dominant

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: Craniosynostosis, Carpal bone malsegmentation, Cone-shaped epiphyses of the toes, and Cone-shaped epiphyses of the phalanges of the hand and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fingers

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, Adelaide type.

1 publication has been identified in PubMed for craniosynostosis, Adelaide type. Research spans Epidemiology / Natural History (100%).

Recent Publications

Osborn AJ (2026). [PMID: 39568377](https://pubmed.ncbi.nlm.nih.gov/39568377/). *Cleft Palate Craniofac J*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600593

Questions for Your Care Team

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craniosynostosis, Adelaide type

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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