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Disease Profile

Bohring-Opitz syndrome

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

-

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Opitz trigonocephaly-like syndrome; Bohring syndrome; BOS syndrome;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apneadevelopmental delayhypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumormicrocephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene.[1][2] The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically.[3]

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 palate
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 developmental delay
0001263
Intellectual disability, severe
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
Microcephaly
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 corpus callosum
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
Seizure
0001250
Short thorax
Shorter than typical length between neck and abdomen
0010306
Strabismus
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

Diagnosis

Making 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

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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

      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

        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. 
        • 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 Bohring-Opitz syndrome. Click on the link to view a sample search on this topic.

          References

          1. What is BOS. Bohring-Opitz Syndrome Foundation, Inc. https://bos-foundation.org/new-page/. Accessed 4/12/2016.
          2. BOHRING-OPITZ SYNDROME. Online Mendelian Inheritance in Man (OMIM). January 22, 2013; https://www.omim.org/entry/605039.
          3. Hastings R, et al.. Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet. 2011 May; 19(5):513-9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083618/.

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