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Bohring-Opitz syndrome


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Other Names:
Opitz trigonocephaly-like syndrome; Bohring syndrome; BOS syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; BOS syndrome; C-like syndrome See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


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Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumor, microcephaly, 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] 
Last updated: 4/12/2016

Symptoms Symptoms


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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.

Showing of 90 |
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
0000587
Agenesis of corpus callosum 0001274
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
Broad alveolar ridges 0000187
Broad palm
Broad hand
Broad hands
Wide palm
[ more ]
0001169
Camptodactyly
Permanent flexion of the finger or toe
0012385
Deep palmar crease
Deep palm line
0006191
Deep plantar creases
Deep wrinkles in soles of feet
0001869
Delayed peripheral myelination 0011401
Dislocated radial head 0003083
Facial hemangioma 0000329
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Gray matter heterotopia 0002282
Hirsutism
Excessive hairiness
0001007
Hyperechogenic pancreas 0006276
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ]
0002365
Intellectual disability, profound
IQ less than 20
0002187
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ]
0001373
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
0000276
Mesomelic/rhizomelic limb shortening 0005026
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow forehead
Decreased width of the forehead
0000341
Narrow palate
Narrow roof of mouth
0000189
Nevus flammeus
port-wine stain
0001052
Overlapping toe
Overlapping toes
Overriding toes
[ more ]
0001845
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Sacral dimple
Spinal dimple
0000960
Short stature
Decreased body height
Small stature
[ more ]
0004322
Short toe
Short toes
Stubby toes
[ more ]
0001831
Syndactyly
Webbed fingers or toes
0001159
Tapered finger
Tapered fingertips
Tapering fingers
[ more ]
0001182
Ulnar deviation of the wrist 0003049
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Vesicoureteral reflux 0000076
Showing of 90 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations


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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

  • ASXL Rare Research Endowment Foundation (ARRE Foundation)
    P.O. Box 4662
    Portland, ME 04112
    E-mail: info@arrefoundation.org
    Website: https://www.arrefoundation.org/
  • Bohring-Opitz Syndrome Foundation, Inc.
    1703 Nw 42 Pl
    Gainesville, FL 32605
    E-mail: info@bos-foundation.org
    Website: http://bos-foundation.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) contains information on Bohring-Opitz syndrome. 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. 
  • 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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. What is BOS. Bohring-Opitz Syndrome Foundation, Inc. http://bos-foundation.org/new-page/. Accessed 4/12/2016.
  2. BOHRING-OPITZ SYNDROME. Online Mendelian Inheritance in Man (OMIM). January 22, 2013; http://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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083618/.
Do you know of a review article? We want to hear from you.
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rare disease research!
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