How rare is Becker nevus syndrome?

Becker nevus syndrome is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Becker nevus syndrome diagnosed?

Diagnosis of Becker nevus syndrome is based on a thorough clinical evaluation, including a physical examination and assessment of the unique skin lesion and related features. Imaging studies and other tests may be used to identify associated skeletal or muscular abnormalities.

Are there treatments for Becker nevus syndrome?

Treatment for Becker nevus syndrome varies depending on the specific symptoms and the extent of the condition. Options are tailored to the individual and may include surgical procedures or other approaches to manage or improve the appearance of the nevus and associated physical differences.

What complications can arise from Becker nevus syndrome?

Becker nevus syndrome can lead to various complications, especially related to the physical differences it causes. These may include underdevelopment of the breast, abnormalities in the shoulder or arm, and issues like scoliosis. These complications can affect daily activities and may require medical attention or therapy.

How does Becker nevus syndrome affect daily life?

Living with Becker nevus syndrome can present challenges, especially if there are physical differences like underdeveloped limbs or scoliosis. These issues may impact mobility, self-esteem, and social interactions. Support from healthcare providers, physical therapy, and counseling can help individuals manage these challenges.

What is the life expectancy for someone with Becker nevus syndrome?

Currently, there is limited information about the life expectancy of individuals with Becker nevus syndrome. Since it is a sporadic condition with varying symptoms, many people live normal lives. Regular check-ups with healthcare providers can help monitor any complications that may arise.

Should families consider genetic counseling for Becker nevus syndrome?

Since Becker nevus syndrome is considered a sporadic condition that usually does not run in families, genetic counseling may not be necessary for most families. However, if there are concerns about the condition or its implications for future children, speaking with a genetic counselor can provide helpful information and support.

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Becker nevus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Becker nevus syndrome

MONDO:0011500

Also known as:pigmentary hairy epidermal nevushairy epidermal nevus syndrome

Overview

Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.

GeneticsACTB (chr 7)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Cervical ribs, Nevus, Sideways curvature of the spine (scoliosis), and Hemivertebrae and 2 more.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Sideways curvature of the spine (scoliosis)

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).

Becker nevus syndrome 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

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)

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 Becker nevus syndrome. 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

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

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 Becker nevus syndrome.

6 publications have been identified in PubMed for Becker nevus syndrome. Research spans Review / Meta-Analysis (67%), Other (17%), and Case Report / Case Series (17%).

Recent Publications

Zhu J (2026). [PMID: 41491585](https://pubmed.ncbi.nlm.nih.gov/41491585/). *Int J Dermatol*. [Other]
Alonso-Mtz de Salinas L (2026). [PMID: 41345742](https://pubmed.ncbi.nlm.nih.gov/41345742/). *J Cutan Pathol*. [Review / Meta-Analysis]
Prasanna S (2026). [PMID: 41717942](https://pubmed.ncbi.nlm.nih.gov/41717942/). *Indian Dermatol Online J*. [Review / Meta-Analysis]
Nicholson CL (2026). [PMID: 32644429](https://pubmed.ncbi.nlm.nih.gov/32644429/). *Unknown Journal*. [Review / Meta-Analysis]
Schlosser AK (2025). [PMID: 40642261](https://pubmed.ncbi.nlm.nih.gov/40642261/). *Plast Reconstr Surg Glob Open*. [Case Report / Case Series]
Gaurav V (2024). [PMID: 38689523](https://pubmed.ncbi.nlm.nih.gov/38689523/). *Pediatr Dermatol*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604919

Orphanet

European rare disease database

Orphanet:64755

GARD

Genetic and Rare Diseases Info Center

GARD:5901

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 Becker nevus syndrome

Becker nevus syndrome is a condition where a skin lesion known as a Becker nevus is found along with other physical differences that can affect the skin, muscles, bones, and sometimes the breast. These differences usually appear on the same side of the body as the nevus. Often, people with this condition may have differences such as underdevelopment of a breast or abnormalities in the shoulder, arm, or spine. The changes in the body are noticeable at birth or develop later in life, and the condition happens sporadically, meaning it typically does not run in families.

Common signs include the presence of a Becker nevus along with underdevelopment (hypoplasia) of the breast, deficiencies in the shoulder or arm, abnormal rib formations, and scoliosis. These features usually occur on the same side of the body as the nevus. Other skin and muscular abnormalities can also be present.

The exact cause of Becker nevus syndrome is not fully understood. It is considered a sporadic condition, which means it tends to occur by chance and usually does not run in families. Research has pointed to a possible genetic role, with the ACTB gene being mentioned in relation to this condition. Associated genes include ACTB.

← Back to All Diseases

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.
Genitourinary	Renal ultrasound	Evaluate for malformation of kidneys /or ureters
Hematology	Blood count platelet count	Baseline study given possible risk for hematologic malignancy1
Genetic counseling	By genetics professionals2	To obtain a pedigree inform affected persons their families re nature, MOI, implications of BWCFF syndrome to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Baraitser-Winter Cerebrofrontofacial Syndrome Manifestation/Concern	Treatment	Considerations/Other Developmental delay /
Intellectual disability	See .	—
Muscle wasting joint limitation	PT may be helpful to slow progressive joint ankyloses scoliosis.	Orthopedic monitoring during growth spurts adolescence for early recognition mgmt of scoliosis
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1 Abnormal vision /or
strabismus	Standard treatment(s) per ophthalmologist if coloboma /or micropthalmia is present poor vision	Ptosis may require surgery.
Hearing	Hearing aids may be helpful; per otolaryngologist.	Community hearing services through early intervention or school district
GI dysfunction	Osmotic laxatives were reported effective in majority of persons w/constipation.	GI eval is necessary to monitor long-term medication. ASM = anti-seizure medication; GI = gastrointestinal; PT = physical therapy Education of parents/caregivers regarding common seizure presentations is appropriate.

Kisho

Becker nevus syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

CDH11

Clinical Trials

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

Becker nevus syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Becker nevus syndrome?

What are the symptoms of Becker nevus syndrome?

What causes Becker nevus syndrome?

How rare is Becker nevus syndrome?

How is Becker nevus syndrome diagnosed?

Are there treatments for Becker nevus syndrome?

What complications can arise from Becker nevus syndrome?

How does Becker nevus syndrome affect daily life?

What is the life expectancy for someone with Becker nevus syndrome?

Should families consider genetic counseling for Becker nevus syndrome?

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

CDH11

Clinical Trials

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA