Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

holoprosencephaly-craniosynostosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly-craniosynostosis syndrome

MONDO:0011059

Also known as:Camero-Lituania-Cohen syndromeGenoa syndromeSemilobar holoprosencephaly and primary craniosynostosis

Overview

Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.

GeneticsAutosomal recessive

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: Coxa valga, Lambdoidal craniosynostosis, Coronal craniosynostosis, and Short distal phalanx of finger and 2 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Lambdoidal craniosynostosis, Coronal craniosynostosis

Diagnosis

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

Prognosis

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 holoprosencephaly-craniosynostosis syndrome.

4 publications have been identified in PubMed for holoprosencephaly-craniosynostosis syndrome. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Waller DK (2026). [PMID: 42089396](https://pubmed.ncbi.nlm.nih.gov/42089396/). *Birth Defects Res*. [Epidemiology / Natural History]
Corona-Rivera JR (2025). [PMID: 40079387](https://pubmed.ncbi.nlm.nih.gov/40079387/). *Am J Med Genet A*. [Case Report / Case Series]
Gallagher ER (2025). [PMID: 39155612](https://pubmed.ncbi.nlm.nih.gov/39155612/). *Cleft Palate Craniofac J*. [Diagnostic / Biomarker]
Escamilla-Vega E (2025). [PMID: 40424121](https://pubmed.ncbi.nlm.nih.gov/40424121/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601370

Orphanet

European rare disease database

Orphanet:2163

GARD

Genetic and Rare Diseases Info Center

GARD:2454

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?

← Back to All Diseases

holoprosencephaly-craniosynostosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features