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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
rareBlepharophimosis-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.
- Identifiers
- MONDO:0008875 OMIM:210745Orphanet:2057
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- blepharophimosis - ptosis - esotropia - syndactyly - short stature · Frydman Cohen Karmon syndrome · Frydman-Cohen-Karmon syndrome
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