Blepharophimosis intellectual disability syndromes

Title

Other Names:

Blepharophimosis mental retardation syndromes; BMRS; Ohdo syndrome; Blepharophimosis mental retardation syndromes; BMRS; Ohdo syndrome; Blepharophimosis syndrome Ohdo type; Ohdo Blepharophimosis syndrome; Young Simpson syndrome; Say Barber Biesecker Young-Simpson syndrome; SBBYS syndrome; Blepharophimosis-intellectual disability syndrome See More

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of cardiovascular system morphology	-
Abnormality of the foot	-
Anteverted nares	-
Autosomal dominant inheritance	-
Blepharophimosis	-
Clinodactyly of the 5th finger	-
Cryptorchidism	-
Epicanthus	-
Feeding difficulties in infancy	-
Hearing impairment	-
Hypoplasia of teeth	-
Intellectual disability	-
Joint laxity	-
Long philtrum	-
Micrognathia	-
Microtia	-
Muscular hypotonia	-
Narrow mouth	-
Proteinuria	-
Ptosis	-
Scrotal hypoplasia	-
Seizures	-
Short nose	-
Smooth philtrum	-
Sparse and thin eyebrow	-
Stenosis of the external auditory canal	-
Thin vermilion border	-
Wide nasal bridge	-
Widely spaced teeth	-

Last updated: 10/1/2017

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Congenital Heart Information Network (C.H.I.N.)
101 N Washington Ave, Suite 1A
Margate City, NJ 08402-1195
Telephone: 609-822-1572
Fax: 609-822-1574
E-mail: mb@tchin.org
Website: http://www.tchin.org
Ohdo Syndrome Family Network (OSFN)
36 Borrowdale Ave
Gatley Cheadle
Cheshire, SK8 4QF
United Kingdom
Telephone: 016-1 4-28 8583
E-mail: patseville@btinternet.com

Parent Matching Organizations

Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family and search using "Ohdo syndrome" to view a list of families who have registered with this Web site.

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a 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
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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.

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References References

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.
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.

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