The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Specific learning disability||7.5%|
|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.