Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Documentation is limited for blepharophimosis-ptosis-epicanthus inversus syndrome plus due to its rarity and the absence of a clearly defined genetic basis. Conditions like this often affect fewer individuals, making systematic clinical studies challenging. Additionally, the overlap of symptoms with other syndromes can complicate accurate characterization and understanding of this condition.
The clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome plus primarily affect the facial and ocular regions. The most common manifestations include telecanthus, ptosis, epicanthus inversus, and blepharophimosis, which are present in nearly all patients. Other features that may be present in a subset of patients include a short philtrum, low-set ears, and a wide nasal bridge, alongside issues with lacrimal gland function.
To navigate your care for blepharophimosis-ptosis-epicanthus inversus syndrome plus, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into your condition and discuss potential genetic counseling options. While there are currently no established patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging with clinical trials may also offer access to cutting-edge research and potential therapies.
Currently, there are no orphan drugs designated for blepharophimosis-ptosis-epicanthus inversus syndrome plus, but there is one active clinical trial. You can explore participation opportunities or learn more about ongoing research by visiting ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=blepharophimosis-ptosis-epicanthus%20inversus%20syndrome%20plus. This trial may provide insights into potential treatment options and further understanding of the condition.
Actionable guidance for navigating care for blepharophimosis-ptosis-epicanthus inversus syndrome plus
To navigate your care for blepharophimosis-ptosis-epicanthus inversus syndrome plus, consider seeking a geneticist or a specialist in rare genetic disorders who can provide insights into your condition and discuss potential genetic counseling options. While there are currently no established patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging with clinical trials may also offer access to cutting-edge research and potential therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.