Rare Neurology News

Disease Profile

Blepharophimosis intellectual disability syndromes

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

rnn-xlinkedrecessive.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

rnn-mitochondrial.svg
no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

BMRS; Ohdo syndrome; Blepharophimosis syndrome Ohdo type;

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.

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.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal foot morphology
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity

[ more ]

0001760
Abnormality of cardiovascular system morphology
0030680
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
Hypothyroidism
Underactive thyroid
0000821
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
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

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

    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.

      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.

          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; https://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; https://www.ncbi.nlm.nih.gov/pubmed/12868473. Accessed 12/2/2011.