Blepharophimosis, Ptosis, and Epicanthus Inversus

Alternative Names

  • BPES
  • BPES, Type I
  • BPES, Type II
  • BPES with Ovarian Failure
  • BPES without Ovarian Failure
  • BPES with Duane Retraction Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

110100

Mode of Inheritance

Autosomal dominant

Gene Map Locus

3q22.3

Description

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare and complex eyelid malformation that is inherited as an autosomal dominant trait. The main four features of this disorder are blepharophimosis (eyelids that are abnormally narrow horizontally), epicanthus inversus (a vertical fold of skin from the lower eyelid up either side of the nose), ptosis (drooping of the upper eyelids), and telecanthus (increased distance between inner canthi). There are thought to be two types of the syndrome. Type I BPES includes the four major features and may involve female infertility. However, type II BPES is not associated with female infertility and includes only the four major features. Prevalence, although not evaluated accurately, is probably less than 1:5,000. Eyelid surgery could improve ptosis.

FOXL2 is the only gene currently known to be associated with BPES. About 50% of cases are due to de novo mutations.

 

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Zaki and Al Husain (1999) described a boy with 46, XY, del(3) (q21q25.3) karyotype. The parents were first cousins with normal karyotypes. The boy was also heterozygous for the sickle cell gene.

[Zaki OK, Al Husain MA. Interstitial deletion of the long arm of chromosome 3. Emirates Med J. 1999; 17(3):159-6.]

Khan et al. (2006) described a Saudi family with a Familial BPES like syndrome that did not map to FOXL2. The three affected siblings (two brothers and a sister) in this family presented with bilateral blepharophimosis, bilateral congenital ptosis, telecanthus, epicanthus inversus, down-slanting lid fissures, broad noses, and a tendency to keep their mouths open. All were small for their age and had a hyperopic cyclopegic refraction of less than +1.75 dioptres in each eye. There was no significant astigmatism or anisometropia. Linkage analysis using three microsatellite markers tightly linked to the FOXL2 gene showed no common segregation of the parental haplotypes among the affected children, thereby excluding the FOXL2 locus. However, Khan et al. (2006) inferred that the relevant locus could be important to the FOXL2 functional pathway, and suggested a whole genome linkage analysis of the family to identify the actual genetic locus involved.

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