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ankyloblepharon filiforme-imperforate anus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ankyloblepharon filiforme-imperforate anus syndrome

MONDO:0015201

Also known as:Aughton-Hufnagle syndromeankyloblepharon filiforme adnatum-imperforate anus syndrome

Overview

An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.

Diagnosis

Biomarker and diagnostic research for ankyloblepharon filiforme-imperforate anus 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 ankyloblepharon filiforme-imperforate anus syndrome.

160 publications have been identified in PubMed for ankyloblepharon filiforme-imperforate anus syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	102	64%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1074

GARD

Genetic and Rare Diseases Info Center

GARD:697

Questions for Your Care Team

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ankyloblepharon filiforme-imperforate anus syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications