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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Accessed April 5, Good surgical results have been published, with the possibilities of having more than one surgery. Further evidence for the location of the blepharophimosis syndrome BPES at 3q Treatment Eye surgery may be an option to correct visual difficulties. From Wikipedia, the free encyclopedia.

Orphanet: Blepharophimosis epicanthus inversus ptosis syndrome

We need long-term secure funding to provide you the information that you need at your fingertips. Two types of BPES are recognized: Page Discussion View form View source History. In addition, she had a congenitally small larynx and severe, chronic feeding difficulties. Retrieved from ” http: BPES is categorized into two types: Web Privacy Policy Nondiscrimination Statement. Female BPES patients can epicanthu be tested for premature ovarian insufficiency.

Blepharophimosis, ptosis, epicanthus inversus syndrome

Menstrual periods in women with POI become less frequent over time and stop before the age of 40 epcanthus leading to either difficulty subfertility or inability to conceive infertility. A case of de novo interstitial deletion 3q.


It affects slightly more males than females. To confirm the clinical diagnosis on the molecular level, several genetic tests can be performed.

Blepharophimosis syndrome

Please consider making a donation now and again in the future. FOXL2 encodes a forkhead transcription factor that contains a typical DNA-binding forkhead domain and a polyalanine tract of 14 residues strictly conserved in mammals.

The final clinical finding used for diagnosis is widely set eyes telecanthus. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. Interstitial deletion of the long arm of chromosome 3.

A four-year-old female with blepharophimosis-ptosis-epicanthus inversus syndrome. These procedures are traditionally done in two stages, though it is possible to do them simultaneously.

Blepharophymosis sic syndrome and de novo balanced autosomal translocation [46,XY,t 3;4 q23;p The child had blepharophimosis, unilateral ptosis, high forehead, microcephaly, and mental retardation, but did not have epicanthus inversus. These compensatory mechanisms result in a characteristic facial appearance. The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of The clinical diagnosis is confirmed by the identification of a genetic defect in the Blepharophimoxis gene or regulatory ptoosis.

As such, other reproductive options may be explored including adoption, foster parenthood, embryo donation, and egg donation.

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

Common clinical features of patients with 3q23 deletion include BPES, growth and mental retardation, microcephaly, ear and nose dysmorphism, and joint and digit abnormalities. The elder sister presented initially with ‘resistant ovary syndrome’ and thereafter true premature menopause, while the younger sister presented with resistant ovary syndrome.


CC ]. Written by Nandini Gandhi, MD.

The surgical management blepharophimpsis 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 blephaarophimosis ptosis correction.

The usual sequence of surgical treatment is correction of the epicanthic folds at about the age of 3—4 years and correction of the ptosis about 9—12 months later. The patient was microcephalic with mild dysmorphism and minor anomalies. Welcome to the GDUK network If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

Interfamilial phenotypic variability for the ovarian phenotype and germline mosaicism have been described.

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