Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

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, Frydman Cohen Karmon syndrome, blepharophimosis - ptosis - esotropia - syndactyly - short stature, blepharophimosis with ptosis, syndactyly, and short stature

0 clinical trials for this condition and its sub-types, 0 tagged with Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome itself.