Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare developmental condition affecting the eyelids and ovary. Typically, four major. Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It is also part of a syndrome blepharophimosis, ptosis, and.

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In some individuals, the disorder is due to a spontaneous de novo genetic mutation that occurs in the egg or sperm cell. Summary Epidemiology So far, less than 30 patients have been reported worldwide.

Syndromw evidence for the location of the BPES gene at 3q2.

Blepharophimosis – Wikipedia

The carrier mother had no abnormality as an adult, but photographs of her as a child showed unilateral minimal ptosis without epicanthus inversus. Congenital disorders of eyes Disorders of eyelid, lacrimal system and orbit Eye stubs.

Care should blepharophimosiis given to treat assoicated amblyopia. Further evidence for the location of the blepharophimosis syndrome BPES at 3q InfancyNeonatal ICD While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.


Rare Disease Database

From Wikipedia, the free encyclopedia. Entire eye Anophthalmia Cystic eyeballCryptophthalmos Microphthalmia. Alone we are rare. 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.

Parental age in the blepharophimosis, ptosis, syndrrome inversus, telecanthus complex. Accessed April 5, Typically, four major facial features are present at birth: Bleepharophimosis addition to small palpebral fissures, features include epicanthus boepharophimosis fold curving in the mediolateral direction, inferior to the inner canthuslow nasal bridge, and ptosis of the eyelids Sacrez et al. Jane Kelly – updated: Dominant genetic disorders occur when only a single copy of an altered gene is necessary to cause blepharophiomsis particular disease.

The infertility is inherited as an autosomal dominant sex-limited trait. Good surgical results have been published, with the possibilities of having more than one surgery. The condition should be considered distinct from congenital ptosis Type I is characterized by the abovementioned eyelid findings and premature ovarian failure and infertility.

To manage the eyelid malformation, surgery is performed with the purpose of correcting the blepharophimosis, epicanthis inversus, telecanthus and ptosis.

Blepharophimosis syndrome

The treatment of blepharophimosis requires coordination among oculoplastic surgeons, pediatric ophthalmologists, pediatric endocrinologists and genetic counselors. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.


Using piggyBac PB insertional mutagenesis, Shi et al. Blepharophimosis syndrome is linked to chromosome 3q.

This gene is expressed primarily in the developing eyelid and in the ovary. Shubhra Goel, MD Review: For more information about blepharophimosia conditions, please visit the Rare Disease Database and use the respective disease name syndroms your search term. Extraocular manifestations include a broad, flat nasal bridge, arched palate, and cup-shaped ears Allen Other associations include lower lid ectropion, widened nasal bridge or superior orbital rim hypoplasia, or hypertelorism, anteverted ears, and thick highly arched eyebrows.

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome BPES.

Blepharophimosis syndrome – EyeWiki

The risk is the same for males and females. Smith described affected mother and daughter. The blepharophimosis, ptosis, and epicanthus inversus syndrome: Blepharophimosis blephaorphimosis a congenital condition characterized by a horizontally narrow palpebral fissure.

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: Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns—Sayre syndrome. Blepharophimosis, ptosis, and epicanthus inversus syndrome.