Baraitser-Winter syndrome

Title

Other Names:

Trigonocephaly ptosis coloboma; Trigonocephaly ptosis mental retardation; Iris coloboma with ptosis hypertelorism and mental retardation; Trigonocephaly ptosis coloboma; Trigonocephaly ptosis mental retardation; Iris coloboma with ptosis hypertelorism and mental retardation; Fryns-Aftimos syndrome; Cerebro-frontofacial syndrome, type 3; BRWS See More

Categories:

Congenital and Genetic Diseases

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
5%-29% of people have these symptoms
Cleft upper lip	Harelip	0000204
Duplication of phalanx of hallux	Duplication of big toe bone Duplication of great toes [ more ]	0010066
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Microphthalmia	Abnormally small eyeball	0000568
Oral cleft	Cleft of the mouth	0000202
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Ventriculomegaly		0002119
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Agenesis of corpus callosum		0001274
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Aortic valve stenosis	Narrowing of aortic valve	0001650
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Bicuspid aortic valve	Aortic valve has two leaflets rather than three	0001647
Chorioretinal coloboma	Birth defect that causes a hole in the innermost layer at the back of the eye	0000567
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Iris coloboma	Cat eye	0000612
Long palpebral fissure	Broad opening between the eyelids Long opening between the eyelids Wide opening between the eyelids [ more ]	0000637
Long philtrum		0000343
Low posterior hairline	Low hairline at back of neck	0002162
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
Micropenis	Short penis Small penis [ more ]	0000054
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Muscular hypotonia	Low or weak muscle tone	0001252
Overfolded helix	Overfolded ears	0000396
Pachygyria	Fewer and broader ridges in brain	0001302
Patent ductus arteriosus		0001643
Pointed chin	Pointy chin Small pointed chin Witch's chin [ more ]	0000307
Postnatal growth retardation	Growth delay as children	0008897
Ptosis	Drooping upper eyelid	0000508
Seizures	Seizure	0001250
Sensorineural hearing impairment		0000407
Short neck	Decreased length of neck	0000470
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short stature	Decreased body height Small stature [ more ]	0004322
Trigonocephaly	Triangular skull shape Wedge shaped skull [ more ]	0000243
Wide mouth	Broad mouth Large mouth [ more ]	0000154
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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

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.

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 contains information on Baraitser-Winter syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Baraitser-Winter syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Baraitser-Winter 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.

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