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holoprosencephaly-radial heart renal anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly-radial heart renal anomalies syndrome

MONDO:0008488

Also known as:Steinfeld syndromeholoprosencephaly radial heart renal anomalies

Overview

Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.

GeneticsAutosomal dominant

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: Aplasia of the nose, Holoprosencephaly, Microcephaly, and Abnormality of the outer ear and others; and common findings: Hypoplasia of the ulna, Absent gallbladder, Microphthalmia, and Aplasia/Hypoplasia of the thumb and others. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, Median cleft palate, Microcephaly

Diagnosis

Biomarker and diagnostic research for holoprosencephaly-radial heart renal anomalies syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 very common features, 7 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 holoprosencephaly-radial heart renal anomalies syndrome.

131 publications have been identified in PubMed for holoprosencephaly-radial heart renal anomalies syndrome. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	44	36%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:184705

Orphanet

European rare disease database

Orphanet:3186

GARD

Genetic and Rare Diseases Info Center

GARD:2727

Questions for Your Care Team

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Kisho

holoprosencephaly-radial heart renal anomalies syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

holoprosencephaly-radial heart renal anomalies syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications