Andersen-Tawil Syndrome

Andersen-Tawil Syndrome (ATS)

River waterfall and mountains
River waterfall and mountains

Diagnostic Criteria (from NIH)

The diagnosis of Andersen-Tawil syndrome might be suspected in individuals with either:[2]

1. Two of the following three criteria:

  • Periodic paralysis
  • Symptomatic cardiac arrhythmias or evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval on electrocardiogram (ECG) 
  • Characteristic facial features, dental abnormalities, small hands and feet, and at least two of the following:
    • Low-set ears
    • Widely spaced eyes
    • Small lower jaw (mandible)
    • Fifth-digit clinodactyly (curved pinky finger)
    • Syndactyly

      or

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.[2]
Last updated: 8/18/2015

How I Meet The Criteria

  1. Must meet two of the criteria
    1. Periodic Paralysis ✔️
    2. Symptomatic cardiac arrhythmias ✔️
      1. I am diagnosed with Bradycardia
        1. My symptoms of bradycardia that would make it symptomatic to meet the criteria are: fatigue or feeling weak, dizzyness or lightheadedness, confusion, near fainting spells, and difficulty when exercising.
      2. I am recently self diagnosed with Postural tachycardia syndrome (PoTS) which is a fast heart rate when standing. I plan on seeking official confirmation in the future when possible.

or

 
Two variants of uncertain significance for Andersen-Tawil Syndrome (ATS) on KCNJ2 with whole genome sequencing (WGS). ✔️
KCNJ2 DNA Results
KCNJ2 DNA Results


Symptom List

Medical TermsOther Names
Learn More:
HPO ID
I Have
5%-29% of people have these symptoms 
Specific learning disability 0001328 ✔️
Percent of people who have these symptoms is not available through HPO 
Antegonial notching of mandible 0003779  
Autosomal dominant inheritance 0000006  
Bidirectional ventricular ectopy 0005147  
Blepharophimosis
Narrow opening between the eyelids
0000581  
Brachydactyly
Short fingers or toes
0001156  
Broad forehead
Increased width of the forehead
more  ]
0000337 ✔️
Bulbous nose 0000414  
Cleft palate
Cleft roof of mouth
0000175  
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209  
Clinodactyly of the 5th toe 0001864  
Delayed eruption of permanent teeth
Delayed eruption of adult teeth
0000696  
Delayed skeletal maturation
Delayed bone maturation
more  ]
0002750  
Depressivity
Depression
0000716 ✔️
Facial asymmetry
Asymmetry of face
more  ]
0000324  
Growth abnormality
Abnormal growth
more  ]
0001507  
High palate
Elevated palate
more  ]
0000218  
Hypertelorism
Wide-set eyes
more  ]
0000316  
Hypokalemia
Low blood potassium levels
0002900 ✔️
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297  
Hypoplasia of the maxilla
Decreased size of maxilla
more  ]
0000327  
Joint laxity
Joint instability
more  ]
0001388 ✔️
Low-set ears
Low set ears
more  ]
0000369  
Malar flattening
Zygomatic flattening
0000272  
Microcephaly
Abnormally small skull
more  ]
0000252  
Oligodontia
Failure of development of more than six teeth
0000677  
Palpitations
Missed heart beat
more  ]
0001962  
Periodic hypokalemic paresis 0008153 ✔️
Persistence of primary teeth
Delayed loss of baby teeth
more  ]
0006335  
Preauricular pit
Pit in front of the ear
0004467  
Prolonged QT interval 0001657  
Prominent frontal sinuses 0005478  
Prominent U wave 0025072  
Scapular winging
Winged shoulder blade
0003691  
Scoliosis 0002650  
Short foot
Short feet
more  ]
0001773 ✔️
Short mandibular rami 0003778  
Short metacarpal
Shortened long bone of hand
0010049  
Short metatarsal
Short long bone of foot
0010743  
Short palm 0004279  
Short palpebral fissure
Short opening between the eyelids
0012745  
Short phalanx of finger
Short finger bones
0009803  
Slender long bone
Long bones slender
more  ]
0003100  
Small hand
Disproportionately small hands
0200055  
Syncope
Fainting spell
0001279 ✔️
Toe syndactyly
Fused toes
more  ]
0001770  
Triangular face
Face with broad temples and narrow chin
more  ]
0000325  

Conclusion

Based on meeting just two of the criteria in the first section that would be enough, but also having the two variants of uncertain significance I believe adds enough evidence to support the diagnosis of Andersen-Tawil Syndrome as my type of periodic paralysis.

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