U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Etiology

"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

Diagnosis

"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
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.
Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJM
Clin Dysmorphol 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1. PMID: 21934608

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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...