How is Baraitser-Winter syndrome 1 inherited?

Baraitser-Winter syndrome 1 follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Baraitser-Winter syndrome 1 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Baraitser-Winter syndrome 1?

Information about treatment options and management approaches is currently limited for this condition.

What complications might arise from Baraitser-Winter syndrome 1?

Baraitser-Winter syndrome 1 can lead to complications such as intellectual disability and epilepsy. These complications can affect daily life and may require special support and management. It's important for families to work closely with healthcare providers to monitor and address these challenges.

How does Baraitser-Winter syndrome 1 affect daily life for individuals?

Daily life for individuals with Baraitser-Winter syndrome 1 may include challenges related to development and learning. Some may need additional support in school and at home. Families often find that understanding the unique needs of their loved ones helps in creating a supportive environment.

What is the prognosis for someone with Baraitser-Winter syndrome 1?

Information about the prognosis for Baraitser-Winter syndrome 1 is currently limited. However, the presence of intellectual disability and other symptoms can impact quality of life. Families are encouraged to seek guidance from healthcare professionals for personalized insights.

Are there specific specialists recommended for managing Baraitser-Winter syndrome 1?

While specific recommendations for specialists are not detailed, individuals with Baraitser-Winter syndrome 1 may benefit from seeing neurologists and developmental specialists. These professionals can help manage symptoms and provide support tailored to the unique needs of the condition.

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Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Baraitser-Winter syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability
Head and neck	4	Thin upper lip vermilion, Microcephaly, Orofacial cleft
Growth and development	3	Short stature, Failure to thrive, Postnatal growth retardation
Heart and blood vessels	2	Aortic valve stenosis, Bicuspid aortic valve
Muscles	2	Low muscle tone (hypotonia), Generalized hypotonia
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Eyes	1	Ptosis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACTB encodes actin beta (375 aa). Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells. Highest expression in Cells EBV-transformed lymphocytes (11,629 TPM) and Artery Tibial (11,596 TPM).

Baraitser-Winter syndrome 1 is associated with mutations in the ACTB gene on chromosome 7.

ACTB is classified as a druggable target (Clinically Actionable and Tumor Suppressor categories) with score 1.5.

104 pathogenic variants reported in ACTB in ClinVar, including hotspot variants NP_001092.1:p.Arg206Gln (2-star review) and NP_001092.1:p.Val209Met (2-star review).

Variant	Significance	Review Stars	Hotspot
NP_001092.1:p.Arg206Gln	Pathogenic	2 stars	Yes
NP_001092.1:p.Val209Met	Pathogenic/Likely pathogenic	2 stars	Yes
NP_001092.1:p.Ser348Leu	Pathogenic/Likely pathogenic	2 stars	Yes
LRG_132p1:p.Arg183Trp	Pathogenic	2 stars	Yes

GeneReviews

Penetrance

The penetrance of BWCFF syndrome appears to be complete, but no single clinical manifestation is constant.

Source: GeneReviews — "Baraitser-Winter Cerebrofrontofacial Syndrome"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome have been published.

Suggestive Findings

BWCFF syndrome should be suspected in individuals with the following clinical and imaging findings.

Clinical findings

Typical craniofacial features (widely spaced eyes, bulbous nose with broad nasal tip and prominent nasal bridge, congenital nonmyopathic ptosis, prominent metopic ridge, and highly arched eyebrows)
Developmental delay / intellectual disability

Variably present findings:

Ocular coloboma
Wasting of the muscles of the shoulder girdle
Sensorineural hearing loss

Imaging findings. Frontal-predominant pachygyria especially in combination with posterior-band heterotopia and enlarged perivascular spaces on brain imaging

Establishing the Diagnosis

The di...

Source: GeneReviews — "Baraitser-Winter Cerebrofrontofacial Syndrome"

GeneReviews

Differential Diagnosis

Disorders to consider in the differential diagnosis of Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome are summarized in .

Table 4.

Selected Disorders in the Differential Diagnosis of Baraitser-Winter Cerebrofrontofacial Syndrome

Gene(s) | Disorder | MOI | Key Features

PTPN11SOS1LZTR1KRASRAF1RIT1SOS2BRAFMAP2K1MRASNRASRRAS21 | Noonan syndrome (NS) | AD(AR)2 | Overlapping features: In BWCFF syndrome w/o brain anomalies, the facial appearance in infancy (when metopic ridge is absent), in assoc w/chest deformity nuchal skinfolds or pterygium colli, may falsely lead to diagnosis of NS.Distinguishing features: Coloboma is rarely observed in NS NS is not assoc w/pachygyria or muscle involvement.

SPECC1L

CDH11

| Hypertelorism, Teebi type (brachycephalofrontonasal dysplasia; OMIM PS145420) | AD | Ov...

Source: GeneReviews — "Baraitser-Winter Cerebrofrontofacial Syndrome"

Genetic testing for ACTB is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Baraitser-Winter syndrome 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with BWCFF syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Baraitser-Winter Cerebrofrontofacial Syndrome

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention / special education
Neurologic	Neurologic eval	To incl brain MRI; Consider EEG if brain MRI anomaly /or seizures present.
Eyes	Ophthalmologic eval incl fundoscopy	To assess for malformation, vision, abnormal ocular mvmt, strabismus
Hearing	Audiologic eval	Assess for hearing loss Gastroenterology
Cardiovascular	Echocardiogram	Assess for congenital heart defects.

Source: GeneReviews — "Baraitser-Winter Cerebrofrontofacial Syndrome"

Clinical Trials

View trials for Baraitser-Winter syndrome 1

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Baraitser-Winter Cerebrofrontofacial Syndrome

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress educational needs.	At each visit Neurologic
Eyes	If coloboma or microphthalmia present, ophthalmologic follow up w/screening for intraocular hypertension glaucoma (a known complication of colobomatous microphthalmia)	At least annually
Hearing loss	Evaluate for progression.	Annually
Cardiovascular	Monitor for complications if cardiac malformation present.	Per cardiologist
Genitourinary	Monitor for renal insufficiency if renal anomaly present.	Per nephrologist
Gastroenterology	Monitor those w/feeding difficulties GI dysfunction.	At least annually
Orthopedic	Monitor for scoliosis.	At least annually; every 6 mos during growth spurts adolescence Family/
Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) care coordination.	At each visit Note: The risk of malignancies is not established for BWCFF syndrome, and thus no regular surveillance is recommended. However, screening for hematologic malignancies must be considered in case of physical deterioration or unexplained chronic fever.

Source: GeneReviews — "Baraitser-Winter Cerebrofrontofacial Syndrome"

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Baraitser-Winter syndrome 1.

15 publications have been identified in PubMed for Baraitser-Winter syndrome 1. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	8	53%
Laboratory research	4	27%
Research summaries	2	13%
Other research	1	7%

Recent Publications

Zhang Y (2026). [PMID: 42087738](https://pubmed.ncbi.nlm.nih.gov/42087738/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Dakos K (2026). [PMID: 42107038](https://pubmed.ncbi.nlm.nih.gov/42107038/). *Orv Hetil*. [Review / Meta-Analysis]
Di Donato N (2026). [PMID: 41529692](https://pubmed.ncbi.nlm.nih.gov/41529692/). *Am J Hum Genet*. [Basic Science / Preclinical]
Kim JH (2026). [PMID: 41927119](https://pubmed.ncbi.nlm.nih.gov/41927119/). *Ann Clin Lab Sci*. [Case Report / Case Series]
Niehaus I (2026). [PMID: 41372632](https://pubmed.ncbi.nlm.nih.gov/41372632/). *EMBO Rep*. [Basic Science / Preclinical]
Cuinat S (2026). [PMID: 41504894](https://pubmed.ncbi.nlm.nih.gov/41504894/). *Neurogenetics*. [Case Report / Case Series]
Castillon E (2026). [PMID: 42206741](https://pubmed.ncbi.nlm.nih.gov/42206741/). *Clin Genet*. [Other]
Bar-On Z (2025). [PMID: 40748410](https://pubmed.ncbi.nlm.nih.gov/40748410/). *J Clin Immunol*. [Case Report / Case Series]
Lee V (2025). [PMID: 41245037](https://pubmed.ncbi.nlm.nih.gov/41245037/). *JPGN Rep*. [Case Report / Case Series]
Zechi-Ceide RM (2025). [PMID: 40771191](https://pubmed.ncbi.nlm.nih.gov/40771191/). *Mol Syndromol*. [Case Report / Case Series]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:243310

GARD

Genetic and Rare Diseases Info Center

GARD:15189

Questions for Your Care Team

→Should I pursue genetic testing for ACTB, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Baraitser-Winter syndrome 1

Baraitser-Winter syndrome 1 is a rare condition that is classified as a Baraitser-Winter cerebrofrontofacial syndrome caused by a mutation in the ACTB gene. This syndrome is one of several that affect the development of the brain and facial features. The condition has been listed with several synonyms and related terms, reflecting the diverse ways in which it has been described in the medical literature. People with this condition may have a range of physical and developmental features. The definition and associated identifiers emphasize that the underlying cause is a mutation in the ACTB gene, which is central to the diagnosis and understanding of the disease.

Information about symptoms is limited; however, some of the synonyms associated with this condition mention intellectual disability, epilepsy, and distinctive facial features. These terms suggest that people with this condition may experience challenges in development and have characteristic facial or neurological features. More detailed, widely confirmed symptom descriptions are currently limited.

The condition is caused by a mutation in the ACTB gene. This gene is important for normal cell function and development. The specific mutation in ACTB disrupts the normal processes of development, leading to the features seen in Baraitser-Winter syndrome 1. Associated genes include ACTB.

Kisho

Baraitser-Winter syndrome 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

CDH11

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

Baraitser-Winter syndrome 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

CDH11

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Baraitser-Winter syndrome 1?

What are the symptoms of Baraitser-Winter syndrome 1?

What causes Baraitser-Winter syndrome 1?

How is Baraitser-Winter syndrome 1 inherited?

How is Baraitser-Winter syndrome 1 diagnosed?

Are there treatments for Baraitser-Winter syndrome 1?

What complications might arise from Baraitser-Winter syndrome 1?

How does Baraitser-Winter syndrome 1 affect daily life for individuals?

What is the prognosis for someone with Baraitser-Winter syndrome 1?

Are there specific specialists recommended for managing Baraitser-Winter syndrome 1?

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA