How is ACTB-associated syndromic thrombocytopenia inherited?

ACTB-associated syndromic thrombocytopenia 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 ACTB-associated syndromic thrombocytopenia diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for ACTB-associated syndromic thrombocytopenia?

Information about treatment is currently limited for this condition.

What complications can arise from ACTB-associated syndromic thrombocytopenia?

ACTB-associated syndromic thrombocytopenia can lead to complications related to blood abnormalities, such as increased risk of bleeding due to low platelet counts. Additionally, developmental delays and mild intellectual disabilities may impact learning and daily activities. It's important to monitor these symptoms closely and work with healthcare providers to manage any complications.

How does ACTB-associated syndromic thrombocytopenia affect daily life for patients?

Living with ACTB-associated syndromic thrombocytopenia can present challenges, especially due to developmental delays and mild intellectual disabilities. Patients may need extra support in school and daily activities to help them succeed. Families often work together to create supportive environments that cater to the individual needs of the patient.

What is the life expectancy for someone with ACTB-associated syndromic thrombocytopenia?

Currently, there is limited information about the life expectancy of individuals with ACTB-associated syndromic thrombocytopenia. Because this is a rare condition, more research is needed to understand its long-term effects. Families are encouraged to stay in touch with healthcare providers for ongoing support and information.

Are there any specialists that should be involved in the care of someone with ACTB-associated syndromic thrombocytopenia?

Yes, it is beneficial for individuals with ACTB-associated syndromic thrombocytopenia to see specialists who understand the condition. This may include hematologists for blood-related issues and developmental specialists for support with learning and growth. A team approach can help address the various aspects of the syndrome effectively.

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ACTB-associated syndromic thrombocytopenia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ACTB-associated syndromic thrombocytopenia

MONDO:0100433

Also known as:ACTB-ASTthrombocytopenia 8, with dysmorphic features and developmental delay

Overview

A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.

GeneticsAutosomal dominant · ACTB (chr 7)

ResearchLimited published research (7 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 always present findings: Increased mean platelet volume, Gray matter heterotopia, Platelet anisocytosis, and Polyhydramnios and others; and very common findings: Mild global developmental delay, Broad nasal tip, and Horizontal eyebrow. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Increased mean platelet volume, Anti-platelet antigen antibody positivity, Platelet anisocytosis

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).

ACTB-associated syndromic thrombocytopenia has been 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 ACTB-associated syndromic thrombocytopenia. 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 ACTB-associated syndromic thrombocytopenia.

7 publications have been identified in PubMed for ACTB-associated syndromic thrombocytopenia. Research spans Case Report / Case Series (57%), Diagnostic / Biomarker (14%), and Basic Science / Preclinical (14%).

Recent Publications

Zhang WK (2025). [PMID: 39189526](https://pubmed.ncbi.nlm.nih.gov/39189526/). *Autophagy*. [Basic Science / Preclinical]
Yan HJ (2025). [PMID: 40677923](https://pubmed.ncbi.nlm.nih.gov/40677923/). *Human mutation*. [Case Report / Case Series]
Bar-On Z (2025). [PMID: 40748410](https://pubmed.ncbi.nlm.nih.gov/40748410/). *Journal of clinical immunology*. [Case Report / Case Series]
Lee GC (2025). [PMID: 41365539](https://pubmed.ncbi.nlm.nih.gov/41365539/). *Journal of microbiology and biotechnology*. [Diagnostic / Biomarker]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergologie select*. [Case Report / Case Series]

Data assembled from 9 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620475

Orphanet

European rare disease database

Orphanet:674653

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 ACTB-associated syndromic thrombocytopenia

ACTB-associated syndromic thrombocytopenia is a rare condition that affects several parts of the body. People with this condition may show signs such as developmental delay, mild intellectual disability, and a smaller than usual head size (microcephaly). In addition to these developmental features, blood abnormalities are also a key part of this syndrome. The condition is also characterized by thrombocytopenia, which means there are fewer platelets in the blood, as well as unusual platelet shapes and sizes.

Common signs of this syndrome include developmental delay, mild intellectual disability, and microcephaly. There are also blood-related issues such as having fewer platelets, platelets that differ in shape (anisotropy), and larger than normal platelets.

The syndrome is linked to changes in the ACTB gene. This gene provides instructions for making proteins that are important for the normal structure and function of cells, although details about how these changes lead to the symptoms are still being studied. Associated genes include ACTB.

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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.

Latest News & Developments

1 recent

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AI-curated news mentioning ACTB-associated syndromic thrombocytopenia

Updated Jul 21, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•2 months ago(Jul 21)

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.

View all news for ACTB-associated syndromic thrombocytopenia

Kisho

ACTB-associated syndromic thrombocytopenia

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

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

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

ACTB-associated syndromic thrombocytopenia

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

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is ACTB-associated syndromic thrombocytopenia?

What are the symptoms of ACTB-associated syndromic thrombocytopenia?

What causes ACTB-associated syndromic thrombocytopenia?

How is ACTB-associated syndromic thrombocytopenia inherited?

How is ACTB-associated syndromic thrombocytopenia diagnosed?

Are there treatments for ACTB-associated syndromic thrombocytopenia?

What complications can arise from ACTB-associated syndromic thrombocytopenia?

How does ACTB-associated syndromic thrombocytopenia affect daily life for patients?

What is the life expectancy for someone with ACTB-associated syndromic thrombocytopenia?

Are there any specialists that should be involved in the care of someone with ACTB-associated syndromic thrombocytopenia?

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

CDH11

Clinical Trials

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease