Pallister-W syndrome
MONDO:0010708Mondo
Findings
No curated finding names Pallister-W syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010708), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the scalp hairHPOHP:0100037
- Very frequent (80% to 99% of cases)
- AcneHPOHP:0001061
- Very frequent (80% to 99% of cases)
- Agenesis of maxillary central incisorHPOHP:0006293
- Very frequent (80% to 99% of cases)
- Alternating esotropiaHPOHP:0001137
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Broad uvulaHPOHP:0010809
- Very frequent (80% to 99% of cases)
- CamptodactylyHPOHP:0012385
- Very frequent (80% to 99% of cases)
- ClinodactylyHPOHP:0030084
- Very frequent (80% to 99% of cases)
- Cubitus valgusHPOHP:0002967
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Very frequent (80% to 99% of cases)
- Metatarsus adductusHPOHP:0001840
- Very frequent (80% to 99% of cases)
- Pes cavusHPOHP:0001761
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Pallister-W syndrome
- Also called
- W syndrome