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craniofacial dyssynostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniofacial dyssynostosis

MONDO:0009034

Also known as:bilateral lambdoid and sagittal synostosiscraniofacial dyssynostosis and short staturecraniofacial dyssynostosis with short stature

Overview

Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.

GeneticsSporadic (not inherited)

ResearchLimited published research (4 articles)

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 very common findings: Frontal bossing, Macrocephaly, Dolichocephaly, and Hypertelorism and others; and common findings: Short stature, Hydrocephalus, Open mouth, and Short philtrum and others. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly)

Diagnosis

Biomarker and diagnostic research for craniofacial dyssynostosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 very common features, 13 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 craniofacial dyssynostosis.

4 publications have been identified in PubMed for craniofacial dyssynostosis. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Clinical Trial Publication (25%).

Recent Publications

Hu Y (2026). [PMID: 42114164](https://pubmed.ncbi.nlm.nih.gov/42114164/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Suzuki M (2025). [PMID: 41248444](https://pubmed.ncbi.nlm.nih.gov/41248444/). *The Journal of craniofacial surgery*. [Diagnostic / Biomarker]
Hartman E (2025). [PMID: 41349025](https://pubmed.ncbi.nlm.nih.gov/41349025/). *Journal of neurosurgery. Pediatrics*. [Clinical Trial Publication]
Nakamura N (2024). [PMID: 38974117](https://pubmed.ncbi.nlm.nih.gov/38974117/). *NMC case report journal*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218350

Orphanet

European rare disease database

Orphanet:1516

GARD

Genetic and Rare Diseases Info Center

GARD:1575

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craniofacial dyssynostosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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