Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES), inherited eyelid syndrome presenting with telecanthus, epicanthus inversus. Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES): Part of a case and tutorial about congenital ptosis from and. Blepharophimosis, ptosis, epicanthus inversus syndrome or BPES is a rare disease characterized by the conditions it is named after: blepharophimosis, ptosis.

Author: Malar Akill
Country: Argentina
Language: English (Spanish)
Genre: Education
Published (Last): 28 July 2008
Pages: 368
PDF File Size: 3.16 Mb
ePub File Size: 5.86 Mb
ISBN: 791-7-23496-480-4
Downloads: 83353
Price: Free* [*Free Regsitration Required]
Uploader: Tejind

Blepharophimosis syndrome BPES associated with del 3q Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q Early surgery for ptosis is advised if the ptosis is severe and amblyogenic.

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a kb interval at chromosome 3q This is usually started between the ages of three and five years. With linkage studies in 2 large families, Harrar et al.

The shortest region of deletion overlap contains several conserved nongenic sequences harboring putative transcription factor-binding sites and representing potential long-range cis-regulatory elements. Blepharophimosis, Ptosis, and Epicanthus Inversus. Rare symptoms include microphthalmos abnormally small eyestear ducts in the wrong location, and high arched palate.

Other differential diagnoses of BPES include disorders in which either droopy eyelids ptosis or narrowing of the eyes blepharophimosis is a major feature. Some experience a feeling of dryness. The patients had the classic syndrome triad of blepharophimosis, ptosis, and epicanthus inversus. The elder sister presented initially with ‘resistant ovary syndrome’ and thereafter true premature menopause, while bleoharophimosis younger sister presented with resistant ovary syndrome.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES)

Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus–a syndrome with no name. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.


Interfamilial phenotypic variability for the ovarian phenotype and germline mosaicism have been described. Accessed April 5, Standard Therapies Treatment Treatment for BPES needs to address both the eyelid malformation and the premature ovarian insufficienty in type I patients.

Affected Populations The prevalence of BPES is unknown, but there are no differences in prevalence based on ethnicity, sex, race or age. D ICD – Type II is diagnosed based on the presence of the four major features alone. Blepharophimosis types 1 and 2 Prevalence: Blepharophimosis plus ovarian failure: By fluorescence in situ hybridization analysis using an assortment of probes, they found that the breakpoint in their patient lay proximal to that in the patient studied by De Baere et al.

Using piggyBac PB insertional mutagenesis, Shi et al. This page was last edited on 22 Februaryat A vertical fold of skin might form from the lower eyelid up either side of the nose.

Other entities represented in this entry: Please consider making a donation now and again in the future. Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhoea. The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome BPES and Langer type of mesomelic dwarfism in the same patient: The transmission pattern of BPES in the original family described by Dimitry was consistent with autosomal dominant inheritance Owens et al.

Orphanet: Blepharophimosis epicanthus inversus ptosis syndrome

Management and treatment The surgical management is traditionally performed in two stages and involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at ages three to five years, followed about a year later by ptosis correction.

Enroll in the International Ophthalmologists contest.

Ishikiriyama and Goto described a girl with BPES, microcephaly of postnatal onset, mild developmental retardation, and a de novo deletion del 3 q In addition to small palpebral fissures, features include epicanthus inversus fold curving in the mediolateral direction, inferior to the inner canthuslow nasal bridge, and ptosis of the eyelids Sacrez et al.


Information on current clinical trials is posted on the Internet at www. For information about clinical trials sponsored by private sources, in the main, contact: The treatment of blepharophimosis requires coordination among oculoplastic surgeons, pediatric ophthalmologists, pediatric endocrinologists and genetic counselors.

The first of these findings is narrowing of the eyelids blepharophimosis. To date, only one recessive mutation of FOXL2 has been described, being a polyalanine expansion of intermediate length, in a consanguineous Indian family. Other disorders that appear similar include Waardenburg syndrome and Ohdo blepharophimosis syndrome. Locus homogeneity of the familial blepharophimosis-ptosis-epicanthus syndrome BPES at sydrome 3q22 locus and identification of a new TWIST mutation 7p21 with variable eyelid manifestations.

Retrieved from ” https: Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion blephadophimosis segment 3qq Blepharophymosis sic syndrome and de novo balanced autosomal translocation [46,XY,t 3;4 q23;p Other common symptoms include lack of an eyelid fold, widely spaced eyes telecanthuslow nose bridge, and ear malformations including cupping and incomplete development. Ishikiriyama and Goto suggested that the association of BPES with microcephaly or other manifestations of ‘general hypoplasia of the CNS’ such as hypotrophy of the cerebellar vermis may represent a contiguous gene syndrome because of the observed association ingersus interstitial deletions.

In a large French pedigree, Amati et al. The patient had a palatal ridge as well as a single mesial maxillary tooth, suggesting the holoprosencephaly sequence, but CT scans of the brain were normal.