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cardiocranial syndrome, Pfeiffer type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiocranial syndrome, Pfeiffer type

MONDO:0009036

Also known as:Pfeiffer-Singer-Zschiesche syndromecraniosynostosis-congenital heart disease-intellectual disability syndromesagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis

Overview

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).

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: Micrognathia, Low-set ears, Global developmental delay, and Growth delay and others; and common findings: Posteriorly rotated ears, Wide nasal bridge, Torticollis, and Downslanted palpebral fissures and others.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger, Cutaneous syndactyly of toes

Prognosis

Phenotype severity distribution: 7 very common features, 27 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218450

Orphanet

European rare disease database

Orphanet:2872

GARD

Genetic and Rare Diseases Info Center

GARD:8586

Questions for Your Care Team

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cardiocranial syndrome, Pfeiffer type

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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