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Disease Profile
Bohring-Opitz 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.
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Age of onset
-
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)
Opitz trigonocephaly-like syndrome; Bohring syndrome; BOS syndrome;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Bohring-Opitz
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Biparietal narrowing | 0004422 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cleft roof of mouth
|
0000175 | |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Global |
0001263 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
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 | |
Nevus flammeus of the forehead |
Port-wine stain on forehead
|
0007413 |
Prominent metopic ridge | 0005487 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Thick hair |
Increased hair density
|
0100874 |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
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 |
30%-79% of people have these symptoms | ||
Abnormal anterior chamber morphology | 0000593 | |
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the pancreas | 0001732 | |
Accessory oral frenulum | 0000191 | |
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 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Intestinal malrotation | 0002566 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
0001250 | ||
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Supernumerary nipple |
Accessory nipple
|
0002558 |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
5%-29% of people have these symptoms | ||
Abnormality of the kidney |
Abnormal kidney
|
0000077 |
Dandy-Walker malformation | 0001305 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Inguinal hernia | 0000023 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Talipes | 0001883 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the optic nerve |
Optic nerve issue
|
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
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
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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