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

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

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.

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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

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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

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

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

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/

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Learn More 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

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

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

What is BOS. Bohring-Opitz Syndrome Foundation, Inc. http://bos-foundation.org/new-page/. Accessed 4/12/2016.
BOHRING-OPITZ SYNDROME. Online Mendelian Inheritance in Man (OMIM). January 22, 2013; http://www.omim.org/entry/605039.
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/.

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