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  3. Baraitser-Winter syndrome
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Baraitser-Winter syndrome


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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


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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 43 |
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
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
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
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
Showing of 43 |
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.

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.

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 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


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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.
You can help advance
rare disease research!
You can help advance rare disease research!
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Find out how with the NCATS Toolkit.

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