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Blepharophimosis-ptosis-epicanthus inversus syndrome plus

Disease definition

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.

ORPHA:572333

Classification level: Disorder
  • Synonym(s):
    • 3q23 microdeletion syndrome
    • BPES plus
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: Q10.3
  • ICD-11: LD44.30
  • OMIM: 110100
  • UMLS: C5437588
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2023) Nederlands (2023)

Additional information

Further information on this disease

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