blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
http://purl.obolibrary.org/obo/MONDO_0008875
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. [ Orphanet:2057 ]
Term info
- GARD:0000905 (MONDO:equivalentTo)
- MESH:C536235 (MONDO:equivalentTo)
- OMIM:210745 (Orphanet:2057/e)
- Orphanet:2057 (OMIM:210745)
- SCTID:717914000 (MONDO:equivalentTo)
ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_2057, http://identifiers.org/snomedct/717914000, https://omim.org/entry/210745, http://identifiers.org/mesh/C536235
Frydman-Cohen-Karmon syndrome
blepharophimosis - ptosis - esotropia - syndactyly - short stature, Frydman Cohen Karmon syndrome, blepharophimosis with ptosis, syndactyly, and short stature
MONDO:0008875