How is Baraitser-winter syndrome 2 inherited?

Baraitser-winter syndrome 2 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 2 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Baraitser-winter syndrome 2?

Information about treatment is currently limited for this condition.

What complications might arise from Baraitser-Winter syndrome 2?

Currently, there is limited information about specific complications related to Baraitser-Winter syndrome 2. Since this syndrome affects the brain and facial structure, it may lead to challenges in development or physical appearance. Regular check-ups with healthcare providers can help monitor any potential issues.

How might Baraitser-Winter syndrome 2 affect daily life?

Daily life for someone with Baraitser-Winter syndrome 2 can vary widely, as specific symptoms are not well-documented. Families may need to adapt their routines based on the individual's needs, especially if there are developmental or physical challenges. Support from healthcare professionals can help manage daily activities.

What is the prognosis for someone with Baraitser-Winter syndrome 2?

Information about the prognosis for Baraitser-Winter syndrome 2 is currently limited. Since this condition is not well understood, it is difficult to predict life expectancy or long-term outcomes. Ongoing medical care and support can help improve quality of life.

Are there specialists recommended for managing Baraitser-Winter syndrome 2?

While specific specialists for Baraitser-Winter syndrome 2 are not detailed, families may benefit from consulting geneticists, neurologists, and developmental specialists. These professionals can provide guidance and support tailored to the unique needs of individuals with this syndrome.

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Baraitser-winter syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Trigonocephaly, Intellectual disability, Highly arched eyebrow, and Ptosis and others; and very common findings: Hearing loss (hearing impairment), Seizure, and Hypertelorism. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability
Head and neck	3	Thin upper lip vermilion, Secondary microcephaly, Orofacial cleft
Ears	1	Hearing loss (hearing impairment)
Growth and development	1	Short stature
Eyes	1	Ptosis

GeneReviews

Clinical Guidance

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations . BWCFF syndrome has been reported in fewer than 100 individuals.

Source: GeneReviews — "Baraitser-Winter Cerebrofrontofacial Syndrome"

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.

ACTG1 encodes actin gamma 1 (375 aa). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Baraitser-winter syndrome 2 is caused by mutations in the ACTG1 gene on chromosome 17.

ACTG1 is classified as a druggable target with score 1.5.

59 pathogenic variants reported in ACTG1 in ClinVar, including hotspot variants 807364 and NP_001186883.1:p.Arg335Cys (2-star review).

Variant	Significance	Review Stars	Hotspot
807364	Pathogenic/Likely pathogenic	—	Yes
NP_001186883.1:p.Arg335Cys	Pathogenic/Likely 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 ACTG1 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 2. 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 2

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: 5 always present features, 3 very common features, 3 common features.

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614583

GARD

Genetic and Rare Diseases Info Center

GARD:15817

Questions for Your Care Team

→Should I pursue genetic testing for ACTG1, 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 2

Baraitser-Winter syndrome 2 is a form of Baraitser-Winter cerebrofrontofacial syndrome. This condition is specifically caused by a mutation in the ACTG1 gene. The disorder is one of several syndromes that affect the brain, face, and other parts of the body, although detailed clinical descriptions and symptoms are not broadly available at this time. Because this condition falls within the spectrum of Baraitser-Winter syndromes, it is recognized by its genetic cause rather than a well-established set of physical symptoms or signs. The term has been associated with multiple names including ACTG1 Baraitser-Winter cerebrofrontofacial syndrome and BRWS2, helping clinicians identify the genetic basis of the disorder.

Information about symptoms is currently limited for this condition.

Baraitser-Winter syndrome 2 is caused by a mutation in the ACTG1 gene. Mutations in this gene are responsible for the unique features associated with this syndrome. This genetic change alters the normal function of the gene, which plays a role in cell structure and function. Associated genes include ACTG1.

Kisho

Baraitser-winter syndrome 2

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

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Baraitser-winter syndrome 2

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 2?

What are the symptoms of Baraitser-winter syndrome 2?

What causes Baraitser-winter syndrome 2?

How is Baraitser-winter syndrome 2 inherited?

How is Baraitser-winter syndrome 2 diagnosed?

Are there treatments for Baraitser-winter syndrome 2?

What complications might arise from Baraitser-Winter syndrome 2?

How might Baraitser-Winter syndrome 2 affect daily life?

What is the prognosis for someone with Baraitser-Winter syndrome 2?

Are there specialists recommended for managing Baraitser-Winter syndrome 2?

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA