Andersen-Tawil syndrome

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Andersen-Tawil syndrome

ORPHA:37553Disease

Also called Andersen syndrome · LQT7 · Long QT syndrome type 7

What it 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.

Key facts

Prevalence
1-9 / 1 000 000
Age of onset
Adolescent, Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

KCNJ2Disease-causing germline mutation(s)
KCNJ5Disease-causing germline mutation(s)

ICD-10 codes

G72.3filed under a broader ICD-10 category — shared with 6 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 9453MEDDRA 10083859MESH D050030MONDO 0008222OMIM 170390UMLS C1563715

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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