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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
Features include very common findings: Thick eyebrow, Blepharophimosis, Ptosis, and Esotropia and others; and common findings: Short stature. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 2 | Abnormal foot morphology, Cutaneous finger syndactyly |
Biomarker and diagnostic research for blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome has been reported in the published literature.
Phenotype severity distribution: 8 very common features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome.
201 publications have been identified in PubMed for blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. Research spans Epidemiology / Natural History (31%), Case Report / Case Series (25%), and Review / Meta-Analysis (23%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 54 | 31% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 |
Borderline intellectual disability, Abnormal cranial nerve morphology |
Muscles | 2 | Weak extraocular muscles, Frontalis muscle weakness |
Head and neck | 2 | Thick lower lip vermilion, Mandibular prognathia |
Growth and development | 1 | Short stature |
Eyes | 1 | Ptosis |
Patient case studies |
44 |
25% |
Research summaries | 40 | 23% |
Laboratory research | 16 | 9% |
Clinical study results | 15 | 9% |
Testing and diagnosis research | 2 | 1% |
New treatment approaches | 2 | 1% |
Other research | 1 | 1% |
Tang J (2026). [PMID: 42095020](https://pubmed.ncbi.nlm.nih.gov/42095020/). *Front Genet*. [Epidemiology / Natural History]
Ngulube MM (2026). [PMID: 40198060](https://pubmed.ncbi.nlm.nih.gov/40198060/). *Unknown Journal*. [Epidemiology / Natural History]
Yılmaz UC (2026). [PMID: 41848173](https://pubmed.ncbi.nlm.nih.gov/41848173/). *J Clin Res Pediatr Endocrinol*. [Basic Science / Preclinical]
Dauber A (2026). [PMID: 41543979](https://pubmed.ncbi.nlm.nih.gov/41543979/). *European journal of endocrinology*. [Review / Meta-Analysis]
Kaur K (2026). [PMID: 35015420](https://pubmed.ncbi.nlm.nih.gov/35015420/). *Unknown Journal*. [Case Report / Case Series]
Scalco RC (2026). [PMID: 41543974](https://pubmed.ncbi.nlm.nih.gov/41543974/). *Eur J Endocrinol*. [Diagnostic / Biomarker]
Chiumello D (2026). [PMID: 41791986](https://pubmed.ncbi.nlm.nih.gov/41791986/). *Br J Anaesth*. [Review / Meta-Analysis]
Hammad WB (2026). [PMID: 41832867](https://pubmed.ncbi.nlm.nih.gov/41832867/). *Best Pract Res Clin Obstet Gynaecol*. [Review / Meta-Analysis]
Jat NS (2026). [PMID: 35593847](https://pubmed.ncbi.nlm.nih.gov/35593847/). *Unknown Journal*. [Case Report / Case Series]
Samarita CM (2026). [PMID: 41882518](https://pubmed.ncbi.nlm.nih.gov/41882518/). *The Journal of hand surgery, European volume*. [Clinical Trial Publication]
AI-curated news mentioning blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Updated May 6, 2026
A comprehensive curation of FOXL2 variants has been published, detailing both coding and noncoding sequence and structural variants associated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES). This resource enhances understanding of the genetic underpinnings of BPES.