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craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

MONDO:0015751

Also known as:Berant syndromeCapra-DeMarco syndromefamilial scaphocephaly-radioulnar synostosis syndrome

Overview

Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.

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: Cryptorchidism, Micropenis, Renal hypoplasia, and Renal agenesis and others; and common findings: Hypospadias, Large fontanelles, Micrognathia, and Anteverted nares and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Hydrocephalus, Seizure, Spastic tetraparesis

Diagnosis

Biomarker and diagnostic research for craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 28 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 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome.

213 publications have been identified in PubMed for craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome. Research spans Review / Meta-Analysis (47%), Basic Science / Preclinical (23%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Research summaries	83

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:171839

GARD

Genetic and Rare Diseases Info Center

GARD:20127

Questions for Your Care Team

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Kisho

craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications