Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
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.
Also known as Frydman-Cohen-Karmon syndrome — per MONDO