Short answer · Medically reviewed summary · Last updated: 2026-05-08
BPES (Blepharophimosis Ptosis Epicanthus Inversus Syndrome) is typically classified under the ICD-10 code Q10.0 (Congenital ptosis) or Q13.0 (Coloboma of iris), as there is no single unique code specifically for BPES. In the older ICD-9 system, the condition was generally coded under 743.61 (Congenital ptosis). What exactly is BPES? Blepharophimosis Ptosis Epicanthus Inversus Syndrome is a rare genetic disorder characterized by four distinct eyelid malformations: blepharophimosis (narrow horizontal eyelid opening), ptosis (drooping eyelids), epicanthus inversus (vertical skin folds near the inner eye corners), and telecanthus (increased distance between the inner corners of the eyes).
ICD10 code of BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome and ICD9 code
ICD-10 and ICD-9 codes for BPES - Blepharophimosis Ptosis Epicanthus Inversus Syndrome, with classification details for clinicians, coders and patients.
BPES (Blepharophimosis Ptosis Epicanthus Inversus Syndrome) is typically classified under the ICD-10 code Q10.0 (Congenital ptosis) or Q13.0 (Coloboma of iris), as there is no single unique code specifically for BPES. In the older ICD-9 system, the condition was generally coded under 743.61 (Congenital ptosis).
What exactly is BPES?
Blepharophimosis Ptosis Epicanthus Inversus Syndrome is a rare genetic disorder characterized by four distinct eyelid malformations: blepharophimosis (narrow horizontal eyelid opening), ptosis (drooping eyelids), epicanthus inversus (vertical skin folds near the inner eye corners), and telecanthus (increased distance between the inner corners of the eyes). With over 70 members in our DiseaseMaps.org community, we recognize that living with BPES involves both functional visual challenges and significant cosmetic considerations that affect quality of life.
How is BPES genetically inherited?
BPES is an autosomal dominant disorder caused by mutations in the FOXL2 gene located on chromosome 3q22.3. Genetic testing is the gold standard for confirming a diagnosis of BPES. Clinical geneticists often categorize the condition into two types:
- Type I: Associated with premature ovarian insufficiency (POI) in females, in addition to the characteristic eyelid features.
- Type II: Characterized solely by the eyelid malformations, without associated ovarian dysfunction.
How is BPES managed clinically?
Management of Blepharophimosis Ptosis Epicanthus Inversus Syndrome is multidisciplinary. Because the condition can lead to amblyopia (lazy eye) or astigmatism due to the physical pressure on the cornea, early intervention is vital.
- Ophthalmological evaluation to assess visual acuity and ocular alignment.
- Surgical correction of the eyelids, typically performed in stages to address both the epicanthal folds and the ptosis.
- Gynecological monitoring for patients with Type I BPES to manage potential fertility concerns.
- Psychological support to address the social impact of the facial features associated with BPES.
Next steps
- Consult with an oculoplastic surgeon specializing in congenital eyelid malformations.
- Request a referral to a genetic counselor to discuss FOXL2 mutation testing and family planning.
- Join the BPES community on DiseaseMaps.org to connect with others who understand the unique journey of this diagnosis.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider with any questions regarding a medical condition.
References
- Orphanet: ORPHA127 (Blepharophimosis-ptosis-epicanthus inversus syndrome)
- NIH GARD: Genetic and Rare Diseases Information Center - BPES
- OMIM: #110100 (Blepharophimosis, Ptosis, and Epicanthus Inversus; BPES)
- PubMed: Clinical reviews on FOXL2 gene mutations and surgical management strategies.
