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Andersen Tawil syndrome

disorder
SNOMED 422348008CUI C1563715

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased volume of upper lip
Always present (100%)HP:0000219
Muscle weakness
Always present (100%)HP:0001324
Periodic paralysis
Always present (100%)HP:0003768
Episodic flaccid weakness
Very frequent (80-99%)HP:0003752
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Decreased body height
Frequent (30-79%)HP:0004322
Dental problems
Frequent (30-79%)HP:0000164
Distortion of face
Frequent (30-79%)HP:0001999
Hyperthyroidism
Frequent (30-79%)HP:0000836
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Long Q-T syndrome
Frequent (30-79%)HP:0001657
Periodic hypokalemic paresis
Frequent (30-79%)HP:0008153
Small finger
Frequent (30-79%)HP:0030033
Ventricular arrhythmias
Frequent (30-79%)HP:0004308
Abnormality of dental color
Occasional (5-29%)HP:0011073
Bidirectional ventricular ectopy
Occasional (5-29%)HP:0005147
Bulbous nose
Occasional (5-29%)HP:0000414
Curvature of the little toe
Occasional (5-29%)HP:0001864
Dental crowding
Occasional (5-29%)HP:0000678
Disproportionately small hands
Occasional (5-29%)HP:0200055
EKG: T-wave abnormalities
Occasional (5-29%)HP:0005135
Epilepsy
Occasional (5-29%)HP:0001250
Growth failure
Occasional (5-29%)HP:0001510
High arched palate
Occasional (5-29%)HP:0000218
Hyperaldosteronism
Occasional (5-29%)HP:0000859
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased U wave amplitude
Occasional (5-29%)HP:0025072
Increased width of bridge of nose
Occasional (5-29%)HP:0000431
Increased width of the forehead
Occasional (5-29%)HP:0000337
Inverted triangular face
Occasional (5-29%)HP:0000325

Related Conditions

Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital long QT syndrome(parent)
Movement disorder(parent)
Disease of skeletal muscle(parent)

Quick Facts

SNOMED CT
422348008
UMLS CUI
C1563715
Fully Specified Name
Andersen Tawil syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.