Conditions / Genetic
Andersen-Tawil syndrome
info · Genetic
A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ea
A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
Signs and symptoms
- Hypertelorism
- Dental crowding
- Thin upper lip vermilion
- Periodic paralysis
- Small hand
- Micrognathia
- Toe syndactyly
- Short foot
- Short stature
- Short metacarpal
Also known as: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Andersen syndrome; LQT7; Long QT syndrome 7; Potassium-Sensitive Cardiodysrhythmic Type