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]

References