You are using an outdated browser. Please upgrade your browser to improve your experience.

blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Disease Summary
Associated Targets ()

Mondo Description Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised 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.
Mondo Term and Equivalent IDs
MONDO:0008875:  blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
GARD:0000905: 
MESH:C536235: 
Orphanet:2057: 
SCTID:717914000: