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.

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Orphanet: Blepharophimosis epicanthus inversus ptosis syndrome

Alone we are rare. In some individuals, the disorder is due to a spontaneous de novo genetic mutation that occurs in the egg or sperm cell. Blepharophimosis plus ovarian failure: In addition, she had a congenitally small larynx and inversua, chronic feeding difficulties. In such situations, the disorder is not inherited from the parents. There are two types, caused by different mutations in this gene, but both follow an autosomal dominant pattern of inheritance. It is a Yahoo!

Invefsus, it is not free to produce. As such, other reproductive options may be explored including adoption, foster parenthood, embryo donation, and egg donation.

Familial blepharophimosis with ovarian dysfunction. 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.

Treatment Eye surgery may be an epidanthus to correct visual difficulties. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q Summary and related texts. University of Washington, Seattle; Registered charity number To manage the eyelid malformation, surgery is performed with the purpose of correcting the blepharophimosis, epicanthis inversus, telecanthus and ptosis.


The altered gene can be inherited from either parent or can be the result of a new mutation in the affected individual. The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of To compensate for the drooping eyelids affected people might tilt their head back and pfosis their brow in order to see better.

All 8 were mentally retarded or developmentally delayed.

The treatment of blepharophimosis requires coordination among oculoplastic surgeons, pediatric ophthalmologists, pediatric endocrinologists and genetic counselors. Views Read Edit View history. Prognosis Prognosis is good and patients have a normal lifespan.

Blepharophimosis syndrome From EyeWiki. This article is an orphanas no other articles link to it. Eye surgery may be an option to correct visual difficulties.

Two were sisters; they had another affected sister who was not investigated. Ophthalmology and Visual Sciences. Other relevant cases had been reported by Martsolf and RayAl-Awadi et al. Affected Populations The prevalence of BPES is unknown, but there are no differences in prevalence based on ethnicity, sex, race or age. 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.

Genetic Disorders UK – Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES)

Jones and Collin reviewed 37 invrsus cases; of the 6 females of child-bearing age, 1 had primary amenorrhea with raised gonadotropins and low estrogen and progesterone. ECF1 functioned as an enhancer in reporter gene assays and interacted directly with the Foxl2 promoter in chromosome conformation capture assays. Sufferers may have a low or flat nasal epicantthus. The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome BPES and Langer type of mesomelic dwarfism in the same patient: Blepharophimosis, ptosis, and epicanthus inversus syndrome.


Females who have BPES type I especially are encouraged for endocrinologic and gynecologic follow up to monitor ovarian function. Le blepharophimosis complique familial: This gene is expressed primarily in the developing ptosus and in the ovary. Hereditary blepharophimosis, ptosis and epicanthus inversus. Using piggyBac PB insertional mutagenesis, Shi et al.

Further evidence for the location of the blepharophimosis syndrome BPES at 3q Interstitial deletion of the long arm of chromosome 3: Interstitial deletion of the long arm of chromosome 3. Rare instances of homozygous mutation in the FOXL2 gene have been reported.

Blepharophimosis syndrome

In addition, the size of the uterus and clinical features observable upon bllepharophimosis ultrasound can be telltale signs of POI. A four-year-old female with blepharophimosis-ptosis-epicanthus inversus syndrome.

These compensatory mechanisms result in a characteristic facial appearance. Other disorders that appear similar include Waardenburg syndrome and Ohdo blepharophimosis syndrome.