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syndromic orbital border hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic orbital border hypoplasia

MONDO:0008138

Also known as:Urrets-Zavalia syndromeorbital margin, hypoplasia OF

Overview

Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.

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: Lacrimal duct atresia, Lower eyelid coloboma, and Congenital extraocular muscle anomaly.

Organ System	Phenotype Count	Example Features
Muscles	1	Congenital extraocular muscle anomaly
Pregnancy and birth

Diagnosis

Biomarker and diagnostic research for syndromic orbital border hypoplasia 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 syndromic orbital border hypoplasia.

25 publications have been identified in PubMed for syndromic orbital border hypoplasia. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (16%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Patient case studies	14	56%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:165600

Orphanet

European rare disease database

Orphanet:98606

GARD

Genetic and Rare Diseases Info Center

GARD:16858

Questions for Your Care Team

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syndromic orbital border hypoplasia

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

syndromic orbital border hypoplasia

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