Andersen-Tawil syndrome
Findings
No curated finding names Andersen-Tawil syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
Definition from the Mondo Disease Ontology (MONDO:0008222), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
54 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.
- Dental crowdingHPOHP:0000678
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- MicrognathiaHPO · MondoHP:0000347
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Obligate (100% of cases)
- Periodic paralysisHPOHP:0003768
- 2 of 2 reported patients
- Obligate (100% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNJ2HGNC:6263
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- KCNJ5HGNC:6266
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Andersen-Tawil syndrome
- Also called
- Andersen cardiodysrhythmic periodic paralysisAndersen syndromelong QT syndrome 7long QT syndrome type 7LQT7