ISSN - 0973-0958

Pediatric Oncall Journal

Familial ptosis

Shalini Avasthi.
Department of pediatrics, Era medical college, Lucknow, UP.

Dr. Shalini Avasthi, Assistant Professor, Department of Pediatrics, Eras medical college, Lucknow.
A 10 years old girl presented to the pediatric outpatient department for the complaints of low grade fever for 1 month. On examination cervical and axillary glands were enlarged. However the most peculiar finding was the typical phenotypic appearance of the patient as well as her father {fig1}. The features were narrowing of the eye opening, inner canthal folds, lateral displacement of inner canthi and drooping upper eyelids. Father also informed that the various other family members from every generation were suffering from the same complaint.

  Familial ptosis
What is the diagnosis?

Blepharophimosis, ptosis, and epicanthus inversus syndrome {also called BPES} is a rare genetic disorder that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening {blepharophimosis}, droopy eyelids {ptosis}, and an upward fold of the skin of the lower eyelid near the inner corner of the eye {epicanthus inversus}. In addition, there is an increased distance between the inner corners of the eyes {telecanthus}. Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. There are two types of BPES. Type I consists of the four major features of blepharophimosis, ptosis, epicanthus inversus, and telecanthus, plus premature ovarian failure. So type I is associated with menstrual problems and infertility. Type II consists of only the eyelid malformations. The prevalence of BPES is unknown. Mutations in the FOXL2 gene cause BPES types I and II. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation` the cause of the condition in these people is unknown. This condition is inherited in an autosomal dominant pattern.

E-published: March 2011 Vol 8 Issue 3 Art # 20
Compliance with ethical standards
Funding:  None  
Conflict of Interest:  None

  1. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) – Medpedia. Available at website:,_and_epicanthus_inversus_syndrome_(BPES). Accessed on 11th January 2011
  2. Blepharophimosis, ptosis, epicanthus inversus syndrome. Available at website: Accessed on 11th January 2011

Cite this article as:
Avasthi S. Familial ptosis. Pediatr Oncall J. 2011;8: 28.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0