blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Findings
No curated finding names blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008875), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cranial nerve morphologyHPOHP:0001291
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- EsotropiaHPOHP:0000565
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Synophrys
Show the remaining 1
- Thick lower lip vermilionHPOHP:0000179
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Also called
- Frydman-Cohen-Karmon syndrome