Blepharophimosis-ptosis-epicanthus inversus syndrome plus

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Blepharophimosis-ptosis-epicanthus inversus syndrome plus

Synonyms: 3q23 microdeletion syndrome | BPES plus

A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis ptosis epicanthus inversus and telechantus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2 the patient has additional features including intellectual disability external genital anomaly spastic diplegia and speech delay. Acquired microcephaly can also be observed.

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 April 2024

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