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A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.
Features include very common findings: Submucous cleft hard palate, Hypertelorism, Broad nasal tip, and Downslanted palpebral fissures and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Spasticity, Global developmental delay, Bilateral tonic-clonic seizure |
Phenotype severity distribution: 25 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Pallister-W syndrome.
1 publication has been identified in PubMed for Pallister-W syndrome. Research spans Case Report / Case Series (100%).
Tan M (2025). [PMID: 40475175](https://pubmed.ncbi.nlm.nih.gov/40475175/). *Mol Syndromol*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Pallister-W syndrome
3 |
Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |