syndromic disease blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/blepharophimosis_ptosis_esotropia_syndactyly_short_stature_syndrome https://www.malacards.org/card/blepharophimosis_with_ptosis_syndactyly_and_short_stature blepharophimosis - ptosis - esotropia - syndactyly - short stature UMLS:C1859432 MESH:C536235 OMIM:210745 MEDGEN:347880 Frydman Cohen Karmon syndrome MONDO:0008875 Frydman-Cohen-Karmon syndrome Orphanet:2057 SCTID:717914000 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. GARD:0000905 multiple congenital anomalies/dysmorphic syndrome without intellectual disability