|Signs and Symptoms||Approximate number of patients (when available)|
|Specific learning disability||Occasional
(present in 5%-29% of cases)
|Antegonial notching of mandible||-|
|Autosomal dominant inheritance||-|
|Bidirectional ventricular ectopy||-|
|Clinodactyly of the 5th finger||-|
|Clinodactyly of the 5th toe||-|
|Delayed eruption of permanent teeth||-|
|Delayed skeletal maturation||-|
|Hypoplasia of dental enamel||-|
|Hypoplasia of the maxilla||-|
|Periodic hypokalemic paresis||-|
|Persistence of primary teeth||-|
|Prolonged QT interval||-|
|Prominent frontal sinuses||-|
|Short mandibular rami||-|
|Short palpebral fissure||-|
|Short phalanx of finger||-|
|Slender long bone||-|
1. Two of the following three criteria:
2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria.The presence of a mutation in the KCNJ2 gene confirms the diagnosis of Andersen-Tawil syndrome.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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