label: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
label_lc: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
description: 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.