Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

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Synonyms: Frydman-Cohen-Karmon syndrome

A rare syndrome 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome?

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Clinical Trials

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