Kisho

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

developmental malformations-deafness-dystonia syndrome (DJO) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental malformations-deafness-dystonia syndrome

MONDO:0011823

Also known as:DJOdystonia, juvenile-onsetjuvenile-onset dystonia

Overview

Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.

GeneticsAutosomal dominant · ACTB (chr 7)

OnsetCHILDHOOD, JUVENILE, ADULT

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: Kyphoscoliosis, Cleft palate, Difficulty swallowing (dysphagia), and Hypoplastic scapulae and others; and common findings: Cataract.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Difficulty swallowing (dysphagia), Mild intellectual disability, Leg dystonia

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).

Developmental malformations-deafness-dystonia 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 developmental malformations-deafness-dystonia syndrome. The disease remains an area of unmet medical need.

Gene therapy approaches for developmental malformations-deafness-dystonia syndrome have been reported in the published literature.

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 developmental malformations-deafness-dystonia syndrome.

234 publications have been identified in PubMed for developmental malformations-deafness-dystonia syndrome. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (30%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	72	31%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607371

Orphanet

European rare disease database

Orphanet:79107

GARD

Genetic and Rare Diseases Info Center

GARD:9818

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?

← 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

developmental malformations-deafness-dystonia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

CDH11

Clinical Trials

Recent Publications

developmental malformations-deafness-dystonia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Establishing the Diagnosis

Differential Diagnosis

CDH11

Clinical Trials

Recent Publications