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atrioventricular defect-blepharophimosis-radial and anal defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrioventricular defect-blepharophimosis-radial and anal defect syndrome

MONDO:0010825

Also known as:Houlston-Ironton-Temple syndromeatrioventricular septal defect with blepharophimosis and anal and radial defects

Overview

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

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 atrioventricular defect-blepharophimosis-radial and anal defect syndrome.

102 publications have been identified in PubMed for atrioventricular defect-blepharophimosis-radial and anal defect syndrome. Kisho has analyzed 29 by research type. Research spans Review / Meta-Analysis (90%), Basic Science / Preclinical (7%), and Epidemiology / Natural History (3%).

Research Type	Count	% of Total
Research summaries	26

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 10:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600123

Orphanet

European rare disease database

Orphanet:1352

GARD

Genetic and Rare Diseases Info Center

GARD:2742

Questions for Your Care Team

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atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications