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Blepharophimosis-ptosis-epicanthus inversus syndrome plus

MedGen UID:
1761196
•Concept ID:
C5437588
•
Disease or Syndrome
Synonyms: 3q23 microdeletion syndrome; Blepharophimosis epicanthus inversus ptosis syndrome plus; blepharophimosis-ptosis-epicanthus inversus syndrome plus; BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus; BPES plus
SNOMED CT: 3q23 microdeletion syndrome (890180006); Blepharophimosis epicanthus inversus ptosis syndrome plus (890180006); BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus (890180006)
 
Monarch Initiative: MONDO:0035521
Orphanet: ORPHA572333

Definition

Blepharophimosis epicanthus inversus ptosis due to 3q23 microdeletion is a form of blepharophimosis epicanthus inversus ptosis syndrome (BPES), which in addition to the classical eyelids features of BPES, presents with genitourinary anomalies, spastic diplegia and speech delay. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlepharophimosis-ptosis-epicanthus inversus syndrome plus

Recent clinical studies

Clinical prediction guides

"Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis.
Landau Prat D, Nguyen BJ, Strong A, Katowitz WR, Katowitz JA
Clin Exp Ophthalmol 2021 Jul;49(5):448-453. Epub 2021 Apr 29 doi: 10.1111/ceo.13933. PMID: 33882191

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