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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Frydman Cohen Karmon syndrome
related
Frydman-Cohen-Karmon syndrome
exact
blepharophimosis - ptosis - esotropia - syndactyly - short stature
related