Rare Immunology News

Disease Profile

Baraitser-Winter 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

Infancy

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ICD-10

Q87.0

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.

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)

Trigonocephaly ptosis coloboma; Fryns-Aftimos syndrome; Cerebro-frontofacial syndrome, type 3;

Categories

Congenital and Genetic Diseases

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
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

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.