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craniosynostosis-fibular aplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis-fibular aplasia syndrome

MONDO:0009038

Also known as:Lowry syndromecraniosynostosis with fibular aplasia

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Overview

Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.

GeneticsAutosomal recessive

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include always present findings: Craniosynostosis, Fibular aplasia, Single transverse palmar crease, and Cryptorchidism.

Organ System	Phenotype Count	Example Features
Head and neck	1	Craniosynostosis

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Diagnosis

Biomarker and diagnostic research for craniosynostosis-fibular aplasia syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

215 publications have been identified in PubMed for craniosynostosis-fibular aplasia syndrome. Kisho has analyzed 99 by research type. Research spans Review / Meta-Analysis (61%), Case Report / Case Series (15%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Research summaries	60

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218550

Orphanet

European rare disease database

Orphanet:1533

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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craniosynostosis-fibular aplasia syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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