Andersen Tawil syndrome

disorder

SNOMED 422348008CUI C1563715

Overview

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

Decreased body height

Frequent (30-79%)HP:0004322

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Hyperthyroidism

Frequent (30-79%)HP:0000836

Long Q-T syndrome

Frequent (30-79%)HP:0001657

Malformation of face

Frequent (30-79%)HP:0001999

Periodic hypokalemic paresis

Frequent (30-79%)HP:0008153

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Small finger

Frequent (30-79%)HP:0030033

Tooth abnormalities

Frequent (30-79%)HP:0000164

Ventricular arrhythmias

Frequent (30-79%)HP:0004308

Abnormality of dental color

Occasional (5-29%)HP:0011073

Bidirectional ventricular ectopy

Occasional (5-29%)HP:0005147

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Clinodactyly of the 5th toe

Occasional (5-29%)HP:0001864

Disproportionately small hands

Occasional (5-29%)HP:0200055

EKG: T-wave abnormalities

Occasional (5-29%)HP:0005135

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 the forehead

Occasional (5-29%)HP:0000337

Inverted triangular face

Occasional (5-29%)HP:0000325

Joint ligamentous laxity

Occasional (5-29%)HP:0001382

Low-set ears

Occasional (5-29%)HP:0000369

Missing more than six teeth

Occasional (5-29%)HP:0000677

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.