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Andersen-Tawil syndrome
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Disease definition
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.
ORPHA:37553
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Clinical practice guidelines
Disease review articles
Clinical genetics review
Genetic testing
Guidance for genetic testing
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (59)
- Clinical trial(s) (3)
- Biobank(s) (14)
- Registry(ies) (30)
- Network of experts (10)
Newborn screening
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