| Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | |
| Synonyms: | Frydman Cohen Karmon syndrome,Blepharophimosis — ptosis — esotropia — syndactyly — short stature[1] |
| Symptoms: | Short stature, minor congenital anomalies, facial dysmorphisms, muscle weakness, blepharophimosis, and ptosis |
| Cause: | --> |
| Risk: | --> |
| Management: | --> |
| Incidence: | or |
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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is characterized by blepharophimosis, ptosis, V-esotropia, foot syndactyly, extra-ocular and frontal muscles weakness, low height/short stature, prognathism, and synophrys.[2] [3] [4]
Only six cases from three consanguineous families across the world have been reported in medical literature.[5] This disorder follows an autosomal recessive inheritance pattern.[6]
Less commonly, anosmia, moderate intellectual disability, hypertelorism, and increased thickness of lower lips and eyebrows can also appear as symptoms of the syndrome[7]