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
Features include always present findings: Intellectual disability; and common findings: Delayed ability to walk, Open mouth, Smooth philtrum, and Protruding tongue and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Myoclonic seizure, Intellectual disability |
CSNK2B encodes casein kinase 2 beta (215 aa). Regulatory subunit of casein kinase II/CK2.
Poirier-Bienvenu neurodevelopmental syndrome is caused by mutations in the CSNK2B gene on chromosome 6.
CSNK2B is classified as a druggable target (Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.
No consensus clinical diagnostic criteria for CSNK2B-related neurodevelopmental disorder (CSNK2B-NDD) have been published.
CSNK2B-NDD should be considered in probands with the following clinical findings and family history.
Clinical findings
Mild-to-profound developmental delay (DD), intellectual disability (ID), or learning disability
No approved treatments are currently available for Poirier-Bienvenu neurodevelopmental syndrome. The disease remains an area of unmet medical need.
No clinical practice guidelines for CSNK2B-related neurodevelopmental disorder (CSNK2B-NDD) have been published. In the absence of published guidelines, the following recommendations are based on the authors personal experience managing individuals with this disorder and similar disorders.
To establish the extent of disease and needs in an individual diagnosed with CSNK2B-NDD, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.
To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. CSNK2B-Related Neurodevelopmental Disorder: Recommended Surveillance
No clinical trials have been registered for Poirier-Bienvenu neurodevelopmental syndrome.
6 publications have been identified in PubMed for Poirier-Bienvenu neurodevelopmental syndrome. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).
He Y (2025). [PMID: 40969926](https://pubmed.ncbi.nlm.nih.gov/40969926/). *Front Pediatr*. [Case Report / Case Series]
Yang L (2025). [PMID: 40211296](https://pubmed.ncbi.nlm.nih.gov/40211296/). *BMC Med Genomics*. [Case Report / Case Series]
Kavaliova H (2025). [PMID: 40317201](https://pubmed.ncbi.nlm.nih.gov/40317201/). *Biol Chem*. [Basic Science / Preclinical]
Aouchiche K (2025). [PMID: 39676320](https://pubmed.ncbi.nlm.nih.gov/39676320/). *Clin Endocrinol (Oxf)*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39493709](https://pubmed.ncbi.nlm.nih.gov/39493709/). *Front Med (Lausanne)*. [Case Report / Case Series]
Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about Poirier-Bienvenu neurodevelopmental syndrome
1 |
Generalized hypotonia |
Head and neck | 1 | Mandibular prognathia |
Age of onset: childhood.
CSNK2B-related neurodevelopmental disorder (CSNK2B-NDD) is characterized by seizures and variable degrees of developmental delay/ intellectual disability. Less consistent findings include ataxia or impaired coordination, generalized hypotonia of infancy, neurobehavioral/psychiatric manifestations, digital abnormalities, and nonspecific facial features. To date, more than 80 individuals have been identified with a CSNK2B pathogenic variant [, , , , , , , , , ]. The following description is based on the well-documented phenotypic features of these individuals .
Table 2.
CSNK2B-Related Neurodevelopmental Disorder: Select Features
Feature | % of Persons w/Feature
Neurodevelopmental delay or disability | 89%
Intellectual disability/ developmental delay | 80%
Epilepsy/seizures | 88%
Source: GeneReviews — "CSNK2B-Related Neurodevelopmental Disorder"
Epilepsy ranging from mild pharmaco-responsive epilepsy to severe intractable epilepsy with recurrent status epilepticus. Seizure types include the following:
Generalized tonic or tonic-clonic seizures
Absence seizures
Myoclonic seizures
Atonic or myoclonic-atonic seizures
Myoclonic-absence seizures
Focal-onset seizures
Less common and variable findings include the following:
Source: GeneReviews — "CSNK2B-Related Neurodevelopmental Disorder"
The phenotypic features associated with CSNK2B-related neurodevelopmental disorder (CSNK2B-NDD) are not sufficient to diagnose this condition clinically. All disorders with intellectual disability and/or epilepsy without other distinctive findings should be considered in the differential diagnosis. See OMIM Phenotypic Series for genes associated with the following:
• Autosomal dominant intellectual developmental disorders
• Early-onset epilepsy
Source: GeneReviews — "CSNK2B-Related Neurodevelopmental Disorder"
Genetic testing for CSNK2B is available. Testing is considered confirmatory for diagnosis.
Table 3.
CSNK2B-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
| Neurologic eval | • To incl brain MRI
EEG incl sleep study to characterize any recurrent abnormal episodes evaluate for subtle or subclinical seizures
| Physical medicine rehab/ PT OT eval | To incl assessment of:
Gross motor fine motor skills
Mobility, ADL, need for adaptive devices
Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Neurobehavioral/
psychiatric manifestations | Mental health eval | For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
| Referral to cardiologist | Echocardiogram EKG to assess for any cardiovascular abnormalit...
Source: GeneReviews — "CSNK2B-Related Neurodevelopmental Disorder"
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
Source: GeneReviews — "CSNK2B-Related Neurodevelopmental Disorder"
View trials for Poirier-Bienvenu neurodevelopmental syndrome
Evaluation |
|---|
Frequency |
|---|
Cardiovascular | For those known to have cardiovascular abnormalities | Per treating cardiologist |
Genital anomalies | Evaluate for genitourinary anomalies. | Per treating urologist |
Endocrine | Assess linear growth. | Per treating endocrinologist |
Family/Community | Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning). | At each visit |
Transition to adult care | Develop realistic plans for adult life (See American Epilepsy Society Transitions from Pediatric Epilepsy to Adult Epilepsy Care plan for independence and independence unlikely.) | Starting by age ~10 yrs OT = occupational therapy; PT = physical therapy |
Source: GeneReviews — "CSNK2B-Related Neurodevelopmental Disorder"
Phenotype severity distribution: 1 always present feature, 8 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
AI-curated news mentioning Poirier-Bienvenu neurodevelopmental syndrome
Updated Apr 14, 2026
Las Vegas Nevada United States As per DelveInsight s assessment globally Netherton Syndrome pipeline constitutes 5 key companies continuously working towards developing 5 Netherton Syndrome treatment therapies analysis of Clinical Trials Therapies Mechanism of Action Route of Administration ... Las Vegas Nevada United States As per DelveInsight s assessment globally Netherton Syndrome pipeline constitutes 5 key companies continuously working towards developing 5 Netherton Syndrome treatment therapies analysis of Clinical Trials Therapies Mechanism of Action Route of Administration and Developments ... This represents an important milestone as Quoin progresses its therapeutic candidate into late-stage clinical development. • In April 2025, ResVita Bio, a therapeutics company specializing in skin disease treatments, announced that the FDA has granted Orphan Drug Designation to RVB-003 for Netherton Syndrome, a serious and chronic skin disorder. Building on the FDA's earlier Rare Pediatric Disease Designation, this milestone highlights ResVita Bio's innovative continuous protein therapy platform, which delivers sustained drug levels directly to the skin, offering enhanced efficacy and improved safety compared to conventional topical treatments. • Netherton Syndrome companies working in the treatment market are Quoin Pharmaceutical, Boehringer Ingelheim, LifeMax Laboratories, Novartis, Daiichi Sankyo, Quoin Pharmaceuticals, Children's Hospital of Philadelphia, and others, are developing therapies for the Netherton Syndrome treatment • Emerging Netherton Syndrome therapies in the different phases of clinical trials are- QRX003, SPEVIGO (spesolimab/BI 655130), LM-030 (BPR277), DS-2325a, Pimecrolimus, and others are expected to have a significant impact on the Netherton Syndrome market in the coming years. • In March 2026, Quoin Pharmaceuticals Ltd. (NASDAQ: QNRX), a late-stage specialty pharmaceutical company focused on rare and orphan diseases, announced a clinical and regulatory update following a constructive Type C meeting with the U.S. Press release - DelveInsight Business Research - Netherton Syndrome Pipeline 2026: FDA Updates, Therapy Innovations, and Clinical Trial Landscape Analysis by DelveInsight - published on openPR.com
Key neurology trials are set to report data in early 2026, including the ADEPT-2 study on xanomeline/trospium for Alzheimer's psychosis and the ELEVATE-PD trial on IPX203 for Parkinson's. These studies may introduce new therapies and impact treatment strategies for Alzheimer's and Parkinson's disease.