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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 42 |

Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of cardiovascular system morphology		0030680
Abnormality of the foot	Abnormal feet morphology Abnormality of the feet Foot deformities Foot deformity [ more ]	0001760
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Autosomal dominant inheritance		0000006
Blepharophimosis	Narrow opening between the eyelids	0000581
Bulbous nose		0000414
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Epicanthus inversus		0000537
Feeding difficulties in infancy		0008872
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hypoplasia of teeth		0000685
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microdontia	Decreased width of tooth	0000691
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Motor delay		0001270
Muscular hypotonia	Low or weak muscle tone	0001252
Narrow mouth	Small mouth	0000160
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Prominent occiput	Prominent back of the skull Prominent posterior skull [ more ]	0000269
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Ptosis	Drooping upper eyelid	0000508
Scrotal hypoplasia	Smaller than typical growth of scrotum	0000046
Seizures	Seizure	0001250
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short stature	Decreased body height Small stature [ more ]	0004322
Smooth philtrum		0000319
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Stenosis of the external auditory canal	Narrowing of passageway from outer ear to middle ear	0000402
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Widely spaced teeth	Wide-spaced teeth Widely-spaced teeth [ more ]	0000687

Showing of 42 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2019

Do you have updated information on this disease? We want to hear from you.

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.)
P.O. Box 3397
Margate City, NJ 08402-0397
Telephone: (609) 823-4507
Fax: 609-822-1574
E-mail: mb@tchin.org
Website: https://www.facebook.com/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.

Do you know of an organization? We want to hear from you.

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

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.

Do you know of a review article? We want to hear from you.

You can help advance
rare disease research! You can help advance rare disease research!