| Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | |
|---|---|
| Other names | Frydman Cohen Karmon syndrome, Blepharophimosis — ptosis — esotropia — syndactyly — short stature [1] |
 | |
| "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" follows an autosomal recessive inheritance pattern | |
| Specialty | Medical genetics |
| Symptoms | Short stature, minor congenital anomalies, facial dysmorphisms, muscle weakness, blepharophimosis, and ptosis |
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]
