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Andersen-Tawil syndrome
rareAndersen'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.
- Identifiers
- MONDO:0008222 OMIM:170390Orphanet:37553
- Causal genes
- KCNJ2
- Part of
- Familial long QT syndromeFamilial periodic paralysisHereditary neuromuscular diseaseMuscular channelopathy
- Also known as
- Andersen cardiodysrhythmic periodic paralysis · Andersen syndrome · long QT syndrome 7 · long QT syndrome type 7 · LQT7
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