Rare Rheumatology News
Advertisement
Disease Profile
Blepharophimosis intellectual disability syndromes
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 >
Age of onset
Infancy
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
BMRS; Ohdo syndrome; Blepharophimosis syndrome Ohdo type;
Summary
Blepharophimosis
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 |
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 |
Stretched and thinned heart muscle
|
0001644 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Epicanthus inversus | 0000537 | |
Feeding difficulties in infancy | 0008872 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypoplasia of teeth | 0000685 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
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 |
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 |
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 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Drooping upper eyelid
|
0000508 | |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
0001250 | ||
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
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
-
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.
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
- 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.
- 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.