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Disease Profile
Opitz G/BBB syndrome
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.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q87.8
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)
Hypospadias-dysphagia, syndrome; Opitz-Frias syndrome; G syndrome;
Summary
Opitz G/BBB
There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The
Treatment depends on the individual’s specific needs.[2]
Symptoms
- Wide-spaced eyes (hypertelorism)
- Defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (
dysphagia ) - Urethra opening on the underside of the penis (hypospadias).
Other frequent findings (minor anomalies) include:[3510[3]
- Mild
intellectual disability anddevelopmental delay occur in about 50 percent of people with Opitz G/BBB syndrome - Delays in motor skills, speech delays, and learning difficulties
- Features similar to autistic spectrum disorders, including impaired communication and socialization skills
- Cleft lip with or without a cleft palate. Some have
cleft palate alone. - Heart defects
- Obstruction of the anal opening (imperforate anus)
- Brain defects such as an absence of the
tissue connecting the left and right halves of the brain (agenesis of the corpus callosum) which occur in less than 50 percent of those affected - Facial dysmorphism such as a flat nasal bridge, thin upper lip, and low set ears.
These features vary among affected individuals, even within the same family.[1]
The signs and symptoms of the
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
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormality of the pharynx | 0000600 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
30%-79% of people have these symptoms | |||
Abnormality of the voice |
Voice abnormality
|
0001608 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 | |
5%-29% of people have these symptoms | |||
Cleft palate |
Cleft roof of mouth
|
0000175 | |
0001363 | |||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 | |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] |
0011069 | |
Large fontanelles |
Wide fontanelles
|
0000239 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 | |
Pectus carinatum |
Pigeon chest
|
0000768 | |
Pectus excavatum |
Funnel chest
|
0000767 | |
Prominent metopic ridge | 0005487 | ||
Sensorineural hearing impairment | 0000407 | ||
Percent of people who have these symptoms is not available through HPO | |||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 | |
Abnormal nasopharynx morphology | 0001739 | ||
Abnormality of cardiovascular system morphology | 0030680 | ||
Abnormality of the kidney |
Abnormal kidney
|
0000077 | |
Abnormality of the ureter | 0000069 | ||
Absent gallbladder | 0011467 | ||
Agenesis of |
0001274 | ||
Anal atresia |
Absent anus
|
0002023 | |
Anal stenosis |
Narrowing of anal opening
|
0002025 | |
Aplasia/Hypoplasia of the cerebellar vermis | 0006817 | ||
Aspiration | 0002835 | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 | |
Autosomal dominant inheritance | 0000006 | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 | |
Bifid uvula | 0000193 | ||
Cavum septum pellucidum | 0002389 | ||
Cerebellar vermis hypoplasia | 0001320 | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 | |
Cleft upper lip |
Harelip
|
0000204 | |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Cranial asymmetry | 0000267 | ||
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 | |
Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 | |
Dysphagia |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Frontal bossing | 0002007 | ||
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 | |
Global developmental delay | 0001263 | ||
Hiatus hernia |
Stomach hernia
|
0002036 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Hoarse cry | 0001615 | ||
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Hypospadias | 0000047 | ||
Infantile onset |
Onset in first year of life
Cause The
Some people who have a The Diagnosis The diagnosis of Opitz G/BBB
Testing Resources
Treatment Because of the wide range of signs and symptoms that may be present in affected individuals, management of Opitz G/BBB
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
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