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Blepharophimosis intellectual disability syndromes


Other Names for this Disease

  • Blepharophimosis mental retardation syndromes
  • Blepharophimosis syndrome Ohdo type
  • BMRS
  • Ohdo Blepharophimosis syndrome
  • Ohdo syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids (ptosis) and intellectual disability. Dr. Ohdo published an article in 1986 describing the first three cases of this syndrome (in a brother, sister, and cousin).[1][2] Since that time many other case reports describing people with similar (yet variable) features have been reported. The syndromes usually occur sporadically. In most cases the underlying cause can not be determined.
Last updated: 12/5/2011

References

  1. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A . 2006 Jun 15; 140(12):1285-96; http://www.ncbi.nlm.nih.gov/pubmed/16700052. Accessed 12/2/2011.
  2. White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clin Dysmorphol. 2003 Apr;12(2):109-13; http://www.ncbi.nlm.nih.gov/pubmed/12868473. Accessed 12/2/2011.
Your Questions Answered
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Please contact us with your questions about Blepharophimosis intellectual disability syndromes. We will answer your question and update these pages with new resources and information.

Basic Information

  • Contact a Family offers information on blepharophimosis intellectual disability syndrome (Ohdo syndrome) on their Web site. Click on Contact a Family to view the information page.
  • Genetics Home Reference (GHR) contains information on Blepharophimosis intellectual disability syndromes. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    OMIM: Ohdo syndrome
    OMIM: Say-Barber-Biesecker-Young-Simpson syndrome
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharophimosis intellectual disability syndromes. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Blepharophimosis mental retardation syndromes
  • Blepharophimosis syndrome Ohdo type
  • BMRS
  • Ohdo Blepharophimosis syndrome
  • Ohdo syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.